D43H (p.Asp43His) variant of SLC34A3 (Q8N130)
D43H (p.Asp43His) in SLC34A3 (Q8N130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
D43H (p.Asp43His) variant details
- p.Asp43His
- gnomAD 9-137232113-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- MetaLR 0.18
- MetaSVM -0.62
- CADD 23.60
- PolyPhen-2 0.77
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available