L58R (p.Leu58Arg) variant of SLC12A1 (Q13621)
L58R (p.Leu58Arg) in SLC12A1 (Q13621) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L58R (p.Leu58Arg) variant details
- p.Leu58Arg
- ExAC rs749839008
- gnomAD rs749839008
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.41
- MetaLR 0.10
- MetaSVM -0.88
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.04
- Population evidence available
- Structural context available