L15V (p.Leu15Val) variant of SLC12A2 (P55011)
L15V (p.Leu15Val) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L15V (p.Leu15Val) variant details
- p.Leu15Val
- gnomAD 5-128083997-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.24
- CADD 5.87
- PolyPhen-2 0.00
- SIFT 0.42
- Population evidence available
- Structural context available
- Literature evidence available