G63W (p.Gly63Trp) variant of NCF1 (Neutrophil cytosol factor 1)
G63W (p.Gly63Trp) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G63W (p.Gly63Trp) variant details
- p.Gly63Trp
- gnomAD 7-74779115-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.69
- MetaLR 0.62
- MetaSVM 0.51
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.041
- Literature evidence available