L128R (p.Leu128Arg) variant of G6PD (P11413)
L128R (p.Leu128Arg) in G6PD (P11413) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CNSHA1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
L128R (p.Leu128Arg) variant details
- p.Leu128Arg
- rs78365220
- ClinGen CA415238638
- ClinVar RCV001244181
- ClinVar RCV003222271
- Pathogenic
- in CNSHA1
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.80
- CADD 22.80
- PolyPhen-2 0.86
- SIFT 0.14
- EBI: Pathogenic (in CNSHA1)
- UniProt: Pathogenic (in CNSHA1)
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD… (PMID 24787449)