Mutation details:

Protein level identifier (NP_115785):

p.His271Gln

cDNA level identifier (NM_032409):

c.813C>A

Gene level identifier:

g.11072C>A

Reference, alternative allele:

C, A

Genomic location hg(19)

1:20971019 (not available on ExAC)

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

29

Phosphorylation activity:

Positive functional evidence:

17707122; 20126261; 22645651; 22910362; 23256036; 23459931; 24189060;

Number of all included cases:

1 homozygous (1 in total).