D38H (p.Asp38His) variant of SLC12A3 (P55017)
D38H (p.Asp38His) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
D38H (p.Asp38His) variant details
- p.Asp38His
- gnomAD 16-56865347-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- MetaLR 0.59
- MetaSVM 0.35
- CADD 25.50
- PolyPhen-2 0.81
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available