R50C (p.Arg50Cys) variant of SLC22A2 (O15244)
R50C (p.Arg50Cys) in SLC22A2 (O15244) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
R50C (p.Arg50Cys) variant details
- p.Arg50Cys
- cosmic curated COSV10087
- ExAC rs760698855
- TOPMed rs760698855
- gnomAD rs760698855
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.57
- CADD 25.50
- PolyPhen-2 0.84
- SIFT 0.16
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available