A2T (p.Ala2Thr) variant of SLC22A6 (Q4U2R8)
A2T (p.Ala2Thr) in SLC22A6 (Q4U2R8) 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 0.24 / 1. The record also includes population frequency data and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- ExAC rs769827557
- TOPMed rs769827557
- gnomAD rs769827557
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.06
- MetaLR 0.17
- MetaSVM -0.85
- CADD 17.20
- PolyPhen-2 0.11
- SIFT 0.49
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available