H12Q (p.His12Gln) variant of SLC34A3 (Q8N130)
H12Q (p.His12Gln) in SLC34A3 (Q8N130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
H12Q (p.His12Gln) variant details
- p.His12Gln
- gnomAD 9-137231738-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- MetaLR 0.04
- MetaSVM -1.00
- CADD 5.75
- PolyPhen-2 0.01
- SIFT 0.51
- Population evidence available
- Structural context available
- Literature evidence available