R2Q (p.Arg2Gln) variant of SLC22A5 (O76082)
R2Q (p.Arg2Gln) in SLC22A5 (O76082) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
R2Q (p.Arg2Gln) variant details
- p.Arg2Gln
- ExAC rs773282630
- TOPMed rs773282630
- gnomAD rs773282630
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.08
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.26
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available