Y48F (p.Tyr48Phe) variant of NCF1 (Neutrophil cytosol factor 1)
Y48F (p.Tyr48Phe) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Y48F (p.Tyr48Phe) variant details
- p.Tyr48Phe
- ESP rs368948045
- gnomAD rs368948045
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.22
- MetaLR 0.32
- MetaSVM -0.58
- CADD 19.00
- PolyPhen-2 0.39
- SIFT 0.64
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.171