A17V (p.Ala17Val) variant of SLC34A3 (Q8N130)
A17V (p.Ala17Val) in SLC34A3 (Q8N130) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- rs750770872
- ExAC rs750770872
- gnomAD rs750770872
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- MetaLR 0.05
- MetaSVM -1.03
- CADD 2.42
- PolyPhen-2 0.00
- SIFT 0.26
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available