A32V (p.Ala32Val) variant of SLC2A10 (O95528)
A32V (p.Ala32Val) in SLC2A10 (O95528) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
A32V (p.Ala32Val) variant details
- p.Ala32Val
- TOPMed rs1488882150
- gnomAD rs1488882150
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.64
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available