R91H (p.Arg91His) variant of SLC22A2 (O15244)
R91H (p.Arg91His) in SLC22A2 (O15244) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R91H (p.Arg91His) variant details
- p.Arg91His
- rs370802129
- cosmic curated COSV65265
- ESP rs370802129
- ExAC rs370802129
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.31
- CADD 22.40
- PolyPhen-2 0.87
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00052)
- Structural context available