C36S (p.Cys36Ser) variant of SLC22A1 (O15245)
C36S (p.Cys36Ser) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
C36S (p.Cys36Ser) variant details
- p.Cys36Ser
- ExAC rs753028126
- TOPMed rs753028126
- gnomAD rs753028126
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.22
- CADD 15.40
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available