V42I (p.Val42Ile) variant of NCF4 (Neutrophil cytosol factor 4)
V42I (p.Val42Ile) in NCF4 (Neutrophil cytosol factor 4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
V42I (p.Val42Ile) variant details
- p.Val42Ile
- ESP rs371578849
- ExAC rs371578849
- TOPMed rs371578849
- gnomAD rs371578849
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.14
- MetaLR 0.19
- MetaSVM -0.90
- CADD 23.30
- PolyPhen-2 0.84
- SIFT 0.21
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available