Mutation details:

Protein level identifier (NP_001243371):

p.Ala287Thr

cDNA level identifier (NM_001256442):

c.859G>A

Gene level identifier:

g.2058G>A

Reference, alternative allele:

G, A

Genomic location hg(19)

16:29825234 (not available on ExAC)

Gene name:

PRRT2

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

23

Phosphorylation activity:

Positive functional evidence:

25915028;

Number of all included cases:

1 heterozygous (1 in total).