R4L (p.Arg4Leu) variant of SLC12A2 (P55011)
R4L (p.Arg4Leu) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R4L (p.Arg4Leu) variant details
- p.Arg4Leu
- gnomAD 5-128083965-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.26
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available