L22V (p.Leu22Val) variant of PRKG1 (cGMP-dependent protein kinase 1)
L22V (p.Leu22Val) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L22V (p.Leu22Val) variant details
- p.Leu22Val
- gnomAD 10-50991442-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- MetaLR 0.34
- MetaSVM -0.40
- CADD 22.60
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available