Mutation details:

Protein level identifier (NP_003681):

p.Cys77Ser

cDNA level identifier (NM_003690):

c.230G>C

Gene level identifier:

g.1266G>C

Reference, alternative allele:

C, G

Genomic location hg(19)

2:179314974 (not available on ExAC)

Gene name:

PRKRA

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 heterozygous (2 in total).