Mutation details:

Protein level identifier (NP_001243371):

p.Ser317Asn

cDNA level identifier (NM_001256442):

c.950G>A

Gene level identifier:

g.2548G>A

Reference, alternative allele:

G, A

Genomic location hg(19)

16:29825724 (not available on ExAC)

Gene name:

PRRT2

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).