R116C (p.Arg116Cys) variant of SLC22A2 (O15244)
R116C (p.Arg116Cys) 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 0.44 / 1. The record also includes population frequency data and structural context.
R116C (p.Arg116Cys) variant details
- p.Arg116Cys
- rs754756404
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10087
- ExAC rs754756404
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.26
- CADD 23.10
- PolyPhen-2 0.81
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:MONGOLIAN population (allele frequency 0.05)
- Structural context available