R17L (p.Arg17Leu) variant of G6PD (P11413)
R17L (p.Arg17Leu) in G6PD (P11413) 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 0.66 / 1. The record also includes population frequency data and structural context.
R17L (p.Arg17Leu) variant details
- p.Arg17Leu
- TOPMed rs1557233196
- gnomAD rs1557233196
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.66
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available