A2S (p.Ala2Ser) variant of SLC22A6 (Q4U2R8)
A2S (p.Ala2Ser) in SLC22A6 (Q4U2R8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- ExAC rs769827557
- TOPMed rs769827557
- gnomAD rs769827557
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.13
- MetaLR 0.21
- MetaSVM -0.62
- CADD 17.30
- PolyPhen-2 0.36
- SIFT 0.41
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available