V62E (p.Val62Glu) variant of SLC34A3 (Q8N130)
V62E (p.Val62Glu) in SLC34A3 (Q8N130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
V62E (p.Val62Glu) variant details
- p.Val62Glu
- Ensembl rs1030903618
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- MetaLR 0.04
- MetaSVM -1.02
- CADD 0.70
- PolyPhen-2 0.02
- SIFT 0.13
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available