H51Y (p.His51Tyr) variant of NCF1 (Neutrophil cytosol factor 1)
H51Y (p.His51Tyr) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, experimental measurements, and structural context.
H51Y (p.His51Tyr) variant details
- p.His51Tyr
- ExAC rs781835731
- TOPMed rs781835731
- gnomAD rs781835731
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.69
- MetaLR 0.56
- MetaSVM 0.29
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.197