A42V (p.Ala42Val) variant of SLC22A6 (Q4U2R8)
A42V (p.Ala42Val) in SLC22A6 (Q4U2R8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
A42V (p.Ala42Val) variant details
- p.Ala42Val
- gnomAD rs1206154516
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.53
- MetaLR 0.40
- MetaSVM -0.17
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available