V146I (p.Val146Ile) variant of G6PD (P11413)
V146I (p.Val146Ile) 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 0.50 / 1. The record also includes population frequency data and structural context.
V146I (p.Val146Ile) variant details
- p.Val146Ile
- TOPMed rs1557230580
- gnomAD rs1557230580
- Uncertain significance
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.59
- CADD 20.70
- PolyPhen-2 0.19
- SIFT 0.04
- ClinVar: Uncertain significance (Anemia, nonspherocytic hemolytic, due to G6PD deficiency)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available