Mutation details:

Protein level identifier (NP_000336):

p.Ala53Thr

cDNA level identifier (NM_000345):

c.157G>A

Gene level identifier:

g.10167G>A

Archive identifier/Other designation:

G209A

Reference, alternative allele:

C, T

Genomic location hg(19)

4:90749300 (not available on ExAC)

Gene name:

SNCA

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

10

Phosphorylation activity:

Positive functional evidence:

15585343; 20628651; 21684039; 24239384; 25296918; 26406140; 27034888; 28053029;

Number of all included cases:

42 heterozygous, 11 n.a. (53 in total).