I43V (p.Ile43Val) variant of NCF4 (Neutrophil cytosol factor 4)
I43V (p.Ile43Val) in NCF4 (Neutrophil cytosol factor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
I43V (p.Ile43Val) variant details
- p.Ile43Val
- ExAC rs779970175
- gnomAD rs779970175
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.18
- MetaLR 0.22
- MetaSVM -0.63
- CADD 24.30
- PolyPhen-2 0.20
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available