D52H (p.Asp52His) variant of SLC34A3 (Q8N130)
D52H (p.Asp52His) in SLC34A3 (Q8N130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
D52H (p.Asp52His) variant details
- p.Asp52His
- gnomAD 9-137232140-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- MetaLR 0.10
- MetaSVM -1.01
- CADD 23.40
- PolyPhen-2 0.28
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available