R52Q (p.Arg52Gln) variant of SLC22A2 (O15244)
R52Q (p.Arg52Gln) 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 0.07 / 1. The record also includes population frequency data and structural context.
R52Q (p.Arg52Gln) variant details
- p.Arg52Gln
- rs767569658
- NCI-TCGA Cosmic COSV6526
- cosmic curated COSV65268
- ExAC rs767569658
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0733
- REVEL 0.04
- CADD 7.82
- PolyPhen-2 0.00
- SIFT 0.15
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available