N66Y (p.Asn66Tyr) variant of NCF1 (Neutrophil cytosol factor 1)
N66Y (p.Asn66Tyr) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N66Y (p.Asn66Tyr) variant details
- p.Asn66Tyr
- gnomAD 7-74779124-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.18
- MetaLR 0.18
- MetaSVM -0.88
- CADD 22.90
- PolyPhen-2 0.46
- SIFT 0.01
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.17
- Literature evidence available