S129C (p.Ser129Cys) variant of SLC22A6 (Q4U2R8)
S129C (p.Ser129Cys) in SLC22A6 (Q4U2R8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
S129C (p.Ser129Cys) variant details
- p.Ser129Cys
- Ensembl rs2086287420
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.40
- MetaLR 0.59
- MetaSVM -0.33
- CADD 25.50
- PolyPhen-2 0.88
- SIFT 0.00
- Population evidence available
- Structural context available