G11V (p.Gly11Val) variant of SLC12A2 (P55011)
G11V (p.Gly11Val) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G11V (p.Gly11Val) variant details
- p.Gly11Val
- gnomAD 5-128083986-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.31
- CADD 22.40
- PolyPhen-2 0.19
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available