A19V (p.Ala19Val) variant of SLC30A8 (Q8IWU4)
A19V (p.Ala19Val) in SLC30A8 (Q8IWU4) 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 0.27 / 1. The record also includes population frequency data and structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- rs145638764
- ESP rs145638764
- ExAC rs145638764
- TOPMed rs145638764
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- AlphaMissense 0.12
- MetaLR 0.14
- MetaSVM -0.99
- PolyPhen-2 0.01
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available