A12V (p.Ala12Val) variant of SLC2A10 (O95528)
A12V (p.Ala12Val) in SLC2A10 (O95528) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- gnomAD rs1979799107
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- CADD 5.59
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available