Mutation details:

Protein level identifier (NP_115785):

p.Trp437Arg

cDNA level identifier (NM_032409):

c.1309T>C

Gene level identifier:

g.15598T>C

Reference, alternative allele:

T, C

Genomic location hg(19)

1:20975545 (not available on ExAC)

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

29

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).