G63R (p.Gly63Arg) variant of NCF1 (Neutrophil cytosol factor 1)
G63R (p.Gly63Arg) 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, published literature, and structural context.
G63R (p.Gly63Arg) variant details
- p.Gly63Arg
- gnomAD 7-74779115-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.66
- MetaLR 0.62
- MetaSVM 0.51
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.041
- Literature evidence available