Mutation details:

Protein level identifier (NP_001243371):

p.Ala214Pro

cDNA level identifier (NM_001256442):

c.640G>C

Gene level identifier:

g.1839G>C

Reference, alternative allele:

G, C

Genomic location hg(19)

16:29825015

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).