G12R (p.Gly12Arg) variant of SLC22A2 (O15244)
G12R (p.Gly12Arg) 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 0.14 / 1. The record also includes population frequency data and structural context.
G12R (p.Gly12Arg) variant details
- p.Gly12Arg
- rs200254093
- NCI-TCGA Cosmic COSV6526
- ExAC rs200254093
- TOPMed rs200254093
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.13
- CADD 13.90
- PolyPhen-2 0.08
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:SHE population (allele frequency 0.056)
- Structural context available