R80C (p.Arg80Cys) variant of SLC22A6 (Q4U2R8)
R80C (p.Arg80Cys) in SLC22A6 (Q4U2R8) 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 0.47 / 1. The record also includes population frequency data and structural context.
R80C (p.Arg80Cys) variant details
- p.Arg80Cys
- rs1185293280
- NCI-TCGA Cosmic COSV6456
- cosmic curated COSV64560
- gnomAD rs1185293280
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.37
- MetaLR 0.27
- MetaSVM -0.58
- CADD 29.00
- PolyPhen-2 0.98
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available