R91S (p.Arg91Ser) variant of SLC22A2 (O15244)
R91S (p.Arg91Ser) 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 0.22 / 1. The record also includes population frequency data and structural context.
R91S (p.Arg91Ser) variant details
- p.Arg91Ser
- ExAC rs755217303
- TOPMed rs755217303
- gnomAD rs755217303
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.27
- CADD 9.09
- PolyPhen-2 0.06
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available