R91C (p.Arg91Cys) variant of SLC22A2 (O15244)
R91C (p.Arg91Cys) in SLC22A2 (O15244) 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 0.34 / 1. The record also includes population frequency data and structural context.
R91C (p.Arg91Cys) variant details
- p.Arg91Cys
- rs755217303
- ClinGen CA4084729
- ClinVar RCV004224158
- ExAC rs755217303
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.39
- CADD 22.00
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0017)
- Structural context available