R15C (p.Arg15Cys) variant of SLC22A6 (Q4U2R8)
R15C (p.Arg15Cys) 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 0.53 / 1. The record also includes population frequency data and structural context.
R15C (p.Arg15Cys) variant details
- p.Arg15Cys
- rs762097180
- NCI-TCGA Cosmic COSV6456
- cosmic curated COSV64561
- ExAC rs762097180
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.41
- MetaLR 0.32
- MetaSVM -0.30
- CADD 29.10
- PolyPhen-2 0.80
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available