A101S (p.Ala101Ser) variant of SLC22A6 (Q4U2R8)
A101S (p.Ala101Ser) in SLC22A6 (Q4U2R8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A101S (p.Ala101Ser) variant details
- p.Ala101Ser
- ExAC rs778287708
- TOPMed rs778287708
- gnomAD rs778287708
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.02
- MetaLR 0.10
- MetaSVM -1.01
- CADD 15.00
- PolyPhen-2 0.06
- SIFT 0.51
- Population evidence available
- Structural context available