Mutation details:

Protein level identifier (NP_001243371):

p.Ala291Val

cDNA level identifier (NM_001256442):

c.872C>T

Gene level identifier:

g.2071C>T

Reference, alternative allele:

C, T

Genomic location hg(19)

16:29825247 (not available on ExAC)

Gene name:

PRRT2

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).