D19A (p.Asp19Ala) variant of SLC34A3 (Q8N130)
D19A (p.Asp19Ala) in SLC34A3 (Q8N130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
D19A (p.Asp19Ala) variant details
- p.Asp19Ala
- gnomAD 9-137231758-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- MetaLR 0.04
- MetaSVM -0.98
- CADD 6.63
- PolyPhen-2 0.01
- SIFT 0.37
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available