M125I (p.Met125Ile) variant of G6PD (P11413)
M125I (p.Met125Ile) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as no classification for the single variant in the context of Anemia, nonspherocytic hemolytic, due to G6PD deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
M125I (p.Met125Ile) variant details
- p.Met125Ile
- rs782130334
- ClinVar RCV002305833
- NCI-TCGA TCGA novel
- ClinGen CA10566255
- no classification for the single variant
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.37
- CADD 0.20
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: no classification for the single variant
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD… (PMID 24787449)