F58L (p.Phe58Leu) variant of NCF1 (Neutrophil cytosol factor 1)
F58L (p.Phe58Leu) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
F58L (p.Phe58Leu) variant details
- p.Phe58Leu
- gnomAD 7-74779102-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.39
- MetaLR 0.27
- MetaSVM -0.62
- CADD 6.97
- PolyPhen-2 0.44
- SIFT 0.02
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.064
- Literature evidence available