I43V (p.Ile43Val) variant of NCF2 (Neutrophil cytosol factor 2)
I43V (p.Ile43Val) in NCF2 (Neutrophil cytosol factor 2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I43V (p.Ile43Val) variant details
- p.Ile43Val
- TOPMed rs1673576220
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.09
- MetaLR 0.21
- MetaSVM -0.90
- CADD 17.80
- PolyPhen-2 0.02
- SIFT 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- NCF2 SH3 domain domainome 1.0: score -0.533