F44S (p.Phe44Ser) variant of NCF1 (Neutrophil cytosol factor 1)
F44S (p.Phe44Ser) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
F44S (p.Phe44Ser) variant details
- p.Phe44Ser
- gnomAD 7-74777325-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.71
- MetaLR 0.50
- MetaSVM 0.07
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.0873
- Literature evidence available