R75C (p.Arg75Cys) variant of SLC22A8 (Organic anion transporter 3)
R75C (p.Arg75Cys) in SLC22A8 (Organic anion transporter 3) is a missense change. Clinical records from ClinVar 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 0.69 / 1. The record also includes population frequency data and structural context.
R75C (p.Arg75Cys) variant details
- p.Arg75Cys
- rs766443125
- NCI-TCGA Cosmic COSV6032
- cosmic curated COSV60324
- ExAC rs766443125
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.69
- MetaLR 0.52
- MetaSVM 0.13
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available