E3V (p.Glu3Val) variant of SLC12A3 (P55017)
E3V (p.Glu3Val) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
E3V (p.Glu3Val) variant details
- p.Glu3Val
- gnomAD 16-56865243-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- MetaLR 0.55
- MetaSVM 0.45
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available