Mutation details:

Protein level identifier (NP_115785):

p.Leu347Pro

cDNA level identifier (NM_032409):

c.1040T>C

Gene level identifier:

g.12186T>C

Reference, alternative allele:

T, C

Genomic location hg(19)

1:20972133

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

15824318; 17579517; 17707122; 18359116; 19242547; 20126261; 20153330; 20164189; 22212487; 22645651; 22910362; 23256036; 23303188; 24189060; 25305081; 25716315;

Number of all included cases:

9 homozygous (9 in total).