Mutation details:

Protein level identifier (NP_001243371):

p.Trp281Arg

cDNA level identifier (NM_001256442):

c.841T>C

Gene level identifier:

g.2040T>C

Reference, alternative allele:

T, C

Genomic location hg(19)

16:29825216 (not available on ExAC)

Gene name:

PRRT2

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

23

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).