R57H (p.Arg57His) variant of PRKG1 (cGMP-dependent protein kinase 1)
R57H (p.Arg57His) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R57H (p.Arg57His) variant details
- p.Arg57His
- rs1382232985
- gnomAD 10-51074739-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.23
- MetaLR 0.37
- MetaSVM -0.32
- CADD 32.00
- PolyPhen-2 0.57
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available