H12D (p.His12Asp) variant of SLC34A3 (Q8N130)
H12D (p.His12Asp) in SLC34A3 (Q8N130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
H12D (p.His12Asp) variant details
- p.His12Asp
- gnomAD 9-137231736-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- MetaLR 0.03
- MetaSVM -0.98
- CADD 1.94
- PolyPhen-2 0.01
- SIFT 0.41
- Population evidence available
- Structural context available
- Literature evidence available