R120L (p.Arg120Leu) variant of G6PD (P11413)
R120L (p.Arg120Leu) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Anemia, nonspherocytic hemolytic, due to G6PD deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R120L (p.Arg120Leu) variant details
- p.Arg120Leu
- rs782820967
- ClinGen CA10566258
- ClinVar RCV001964872
- ExAC rs782820967
- Uncertain significance
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.49
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Uncertain significance (Anemia, nonspherocytic hemolytic, due to G6PD deficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD… (PMID 24787449)