P5L (p.Pro5Leu) variant of SLC12A2 (P55011)
P5L (p.Pro5Leu) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P5L (p.Pro5Leu) variant details
- p.Pro5Leu
- gnomAD 5-128083968-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.21
- CADD 17.10
- PolyPhen-2 0.02
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available