Mutation details:

Protein level identifier (NP_115785):

p.Pro416Leu

cDNA level identifier (NM_032409):

c.1247C>T

Gene level identifier:

g.15174C>T

Reference, alternative allele:

C, T

Genomic location hg(0)

1:20975121 (not available on ExAC)

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

Not available

CADD score:

32

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).