S2L (p.Ser2Leu) variant of SLC12A1 (Q13621)
S2L (p.Ser2Leu) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
S2L (p.Ser2Leu) variant details
- p.Ser2Leu
- gnomAD 15-48207724-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.49
- MetaLR 0.73
- MetaSVM 0.72
- CADD 25.20
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available