V49L (p.Val49Leu) variant of PRKG1 (cGMP-dependent protein kinase 1)
V49L (p.Val49Leu) in PRKG1 (cGMP-dependent protein kinase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
V49L (p.Val49Leu) variant details
- p.Val49Leu
- gnomAD 10-51074744-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.21
- MetaLR 0.32
- MetaSVM -0.51
- CADD 23.30
- PolyPhen-2 0.04
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available