L22R (p.Leu22Arg) variant of PRKG1 (cGMP-dependent protein kinase 1)
L22R (p.Leu22Arg) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
L22R (p.Leu22Arg) variant details
- p.Leu22Arg
- gnomAD 10-50991443-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- MetaLR 0.47
- MetaSVM -0.02
- CADD 25.80
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available