R50C (p.Arg50Cys) variant of SLC22A8 (Organic anion transporter 3)
R50C (p.Arg50Cys) in SLC22A8 (Organic anion transporter 3) 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 0.45 / 1. The record also includes population frequency data and structural context.
R50C (p.Arg50Cys) variant details
- p.Arg50Cys
- rs929442101
- NCI-TCGA Cosmic COSV6032
- cosmic curated COSV60326
- TOPMed rs929442101
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.34
- MetaLR 0.36
- MetaSVM -0.62
- CADD 24.50
- PolyPhen-2 0.84
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available