V18A (p.Val18Ala) variant of SLC34A3 (Q8N130)
V18A (p.Val18Ala) in SLC34A3 (Q8N130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
V18A (p.Val18Ala) variant details
- p.Val18Ala
- ESP rs371595930
- ExAC rs371595930
- gnomAD rs371595930
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- MetaLR 0.04
- MetaSVM -1.00
- CADD 13.10
- PolyPhen-2 0.04
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available