L128P (p.Leu128Pro) variant of G6PD (P11413)
L128P (p.Leu128Pro) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Anemia, nonspherocytic hemolytic, due to G6PD deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
L128P (p.Leu128Pro) variant details
- p.Leu128Pro
- rs78365220
- ClinGen CA203034
- ClinVar RCV000178824
- ClinVar RCV000778895
- Likely pathogenic
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.85
- CADD 23.20
- PolyPhen-2 0.97
- SIFT 0.05
- ClinVar: Likely pathogenic (Anemia, nonspherocytic hemolytic, due to G6PD deficiency)
- EBI: Pathogenic (in CNSHA1)
- UniProt: Pathogenic (in CNSHA1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Multiple glucose 6-phosphate dehydrogenase-deficient variants correlate with malaria endemicity in the Vanuatu… (PMID 7825590)
- Cited in: Molecular characterization of a German variant of glucose-6-phosphate dehydrogenase deficiency (G6PD Aachen). (PMID 10772881)