A53V (p.Ala53Val) variant of SLC22A6 (Q4U2R8)
A53V (p.Ala53Val) in SLC22A6 (Q4U2R8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A53V (p.Ala53Val) variant details
- p.Ala53Val
- ExAC rs753349251
- gnomAD rs753349251
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.04
- MetaLR 0.10
- MetaSVM -1.04
- CADD 15.40
- PolyPhen-2 0.04
- SIFT 0.31
- Population evidence available
- Structural context available