Mutation details:

Protein level identifier (NP_001243371):

p.Ile327Met

cDNA level identifier (NM_001256442):

c.981C>G

Gene level identifier:

g.2579C>G

Reference, alternative allele:

C, G

Genomic location hg(19)

16:29825755 (not available on ExAC)

Gene name:

PRRT2

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

5 heterozygous (5 in total).