Mutation details:

Protein level identifier (NP_003681):

p.Glu186Asp

cDNA level identifier (NM_003690):

c.558G>T

Gene level identifier:

g.9852G>T

Reference, alternative allele:

C, A

Genomic location hg(19)

2:179306388 (not available on ExAC)

Gene name:

PRKRA

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

22

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).