R53G (p.Arg53Gly) variant of SLC2A2 (P11168)
R53G (p.Arg53Gly) in SLC2A2 (P11168) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R53G (p.Arg53Gly) variant details
- p.Arg53Gly
- ExAC rs771477447
- TOPMed rs771477447
- gnomAD rs771477447
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.28
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.02
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available