Mutation details:

Protein level identifier:

p.Ala53Glu

cDNA level identifier:

c.158C>A

Genome level identifier:

g.10168C>A

Reference, alternative allele:

G, T

Genetic location (hg19):

chr4:90749299 (not available on ExAC)

Gene name:

SNCA

Consequence:

missense

Pathogenicity scoring:

definitely pathogenic

CADD score:

10

Positive functional evidence:

15585343; 20628651; 21684039; 24239384; 25296918; 26406140; 27034888; 28053029

Diseases reported for this mutation:

PARK-SNCA

Number of all included cases:

5 heterozygous, 1 n.g. (6 in total).

×