H129P (p.His129Pro) variant of G6PD (P11413)
H129P (p.His129Pro) in G6PD (P11413) is a missense change. Clinical records from ClinVar 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 0.31 / 1. The record also includes population frequency data and structural context.
H129P (p.His129Pro) variant details
- p.His129Pro
- cosmic curated COSV63703
- ExAC rs782402416
- TOPMed rs782402416
- gnomAD rs782402416
- Uncertain significance
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.45
- CADD 10.90
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Uncertain significance (Anemia, nonspherocytic hemolytic, due to G6PD deficiency)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available