R62C (p.Arg62Cys) variant of SLC22A2 (O15244)
R62C (p.Arg62Cys) in SLC22A2 (O15244) 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 0.42 / 1. The record also includes population frequency data and structural context.
R62C (p.Arg62Cys) variant details
- p.Arg62Cys
- rs1314319598
- NCI-TCGA Cosmic COSV6526
- cosmic curated COSV65266
- TOPMed rs1314319598
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.40
- CADD 23.30
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available