F44V (p.Phe44Val) variant of NCF1 (Neutrophil cytosol factor 1)
F44V (p.Phe44Val) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
F44V (p.Phe44Val) variant details
- p.Phe44Val
- gnomAD 7-74777324-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.77
- MetaLR 0.40
- MetaSVM -0.25
- CADD 25.60
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.0873
- Literature evidence available