Mutation details:

Protein level identifier (NP_000336):

p.Ala53Glu

cDNA level identifier (NM_000345):

c.158C>A

Gene level identifier:

g.10168C>A

Reference, alternative allele:

G, T

Genomic location hg(19)

4:90749299 (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:

5 heterozygous, 1 n.a. (6 in total).

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