Mutation details:

Protein level identifier (NP_115785):

p.Ala339Thr

cDNA level identifier (NM_032409):

c.1015G>A

Gene level identifier:

g.12161G>A

Reference, alternative allele:

G, A

Genomic location hg(19)

1:20972108

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

19847793; 24374372;

Number of all included cases:

1 compound heterozygous (1 in total).