R80H (p.Arg80His) variant of SLC22A6 (Q4U2R8)
R80H (p.Arg80His) in SLC22A6 (Q4U2R8) 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.
R80H (p.Arg80His) variant details
- p.Arg80His
- rs755249293
- ClinGen CA6059503
- cosmic curated COSV64560
- ClinVar RCV004451340
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.14
- MetaLR 0.14
- MetaSVM -0.93
- CADD 21.00
- PolyPhen-2 0.15
- SIFT 0.08
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available