P56H (p.Pro56His) variant of SLC34A3 (Q8N130)
P56H (p.Pro56His) in SLC34A3 (Q8N130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
P56H (p.Pro56His) variant details
- p.Pro56His
- gnomAD 9-137232153-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- MetaLR 0.05
- MetaSVM -1.03
- CADD 21.30
- PolyPhen-2 0.01
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available