Mutation details:

Protein level identifier (NP_003681):

p.Ser265Arg

cDNA level identifier (NM_003690):

c.795C>A

Gene level identifier:

g.19269C>A

Reference, alternative allele:

G, T

Genomic location hg(19)

2:179296971 (not available on ExAC)

Gene name:

PRKRA

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).