L27V (p.Leu27Val) variant of SLC12A2 (P55011)
L27V (p.Leu27Val) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
L27V (p.Leu27Val) variant details
- p.Leu27Val
- TOPMed rs1185970616
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.17
- CADD 6.79
- PolyPhen-2 0.00
- SIFT 0.26
- Population evidence available
- Structural context available