E28V (p.Glu28Val) variant of SLC34A3 (Q8N130)
E28V (p.Glu28Val) in SLC34A3 (Q8N130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
E28V (p.Glu28Val) variant details
- p.Glu28Val
- gnomAD 9-137231785-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- MetaLR 0.04
- MetaSVM -1.05
- CADD 25.10
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available