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:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

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