A42S (p.Ala42Ser) variant of SLC22A6 (Q4U2R8)
A42S (p.Ala42Ser) in SLC22A6 (Q4U2R8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
A42S (p.Ala42Ser) variant details
- p.Ala42Ser
- gnomAD rs1255802272
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.40
- MetaLR 0.40
- MetaSVM -0.15
- CADD 23.80
- PolyPhen-2 0.96
- SIFT 0.03
- Population evidence available
- Structural context available