N66I (p.Asn66Ile) variant of NCF1 (Neutrophil cytosol factor 1)
N66I (p.Asn66Ile) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N66I (p.Asn66Ile) variant details
- p.Asn66Ile
- gnomAD 7-74779125-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.17
- MetaLR 0.16
- MetaSVM -0.92
- CADD 23.00
- PolyPhen-2 0.46
- SIFT 0.01
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.17
- Literature evidence available