A63V (p.Ala63Val) variant of SLC34A3 (Q8N130)
A63V (p.Ala63Val) in SLC34A3 (Q8N130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A63V (p.Ala63Val) variant details
- p.Ala63Val
- TOPMed rs1204965503
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- MetaLR 0.05
- MetaSVM -1.06
- CADD 14.10
- PolyPhen-2 0.14
- SIFT 0.16
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available