R9C (p.Arg9Cys) variant of SLC22A8 (Organic anion transporter 3)
R9C (p.Arg9Cys) in SLC22A8 (Organic anion transporter 3) 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 0.35 / 1. The record also includes population frequency data and structural context.
R9C (p.Arg9Cys) variant details
- p.Arg9Cys
- rs1482892604
- ClinGen CA380990459
- NCI-TCGA Cosmic COSV6032
- cosmic curated COSV60327
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.28
- MetaLR 0.26
- MetaSVM -0.49
- CADD 24.80
- PolyPhen-2 0.87
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available