I91V (p.Ile91Val) variant of NCF2 (Neutrophil cytosol factor 2)
I91V (p.Ile91Val) 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 0.18 / 1. The record also includes population frequency data and structural context.
I91V (p.Ile91Val) variant details
- p.Ile91Val
- gnomAD rs1558101170
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.07
- MetaLR 0.15
- MetaSVM -0.96
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 0.96
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available