Mutation details:

Protein level identifier (NP_115785):

p.Ser419Pro

cDNA level identifier (NM_032409):

c.1255T>C

Gene level identifier:

g.15544T>C

Reference, alternative allele:

T, C

Genomic location hg(19)

1:20975491 (not available on ExAC)

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

21

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 homozygous (2 in total).