H51P (p.His51Pro) variant of NCF1 (Neutrophil cytosol factor 1)
H51P (p.His51Pro) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, and structural context.
H51P (p.His51Pro) variant details
- p.His51Pro
- ExAC rs782495977
- TOPMed rs782495977
- gnomAD rs782495977
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.72
- MetaLR 0.53
- MetaSVM 0.18
- CADD 27.40
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.197