C49R (p.Cys49Arg) variant of SLC22A8 (Organic anion transporter 3)
C49R (p.Cys49Arg) 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 0.61 / 1. The record also includes population frequency data and structural context.
C49R (p.Cys49Arg) variant details
- p.Cys49Arg
- rs1457076673
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10026
- gnomAD rs1457076673
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.71
- MetaLR 0.45
- MetaSVM 0.12
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available