K42R (p.Lys42Arg) variant of PRKG1 (cGMP-dependent protein kinase 1)
K42R (p.Lys42Arg) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
K42R (p.Lys42Arg) variant details
- p.Lys42Arg
- gnomAD 10-51074712-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.09
- MetaLR 0.10
- MetaSVM -0.99
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available