E61G (p.Glu61Gly) variant of NCF1 (Neutrophil cytosol factor 1)
E61G (p.Glu61Gly) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E61G (p.Glu61Gly) variant details
- p.Glu61Gly
- gnomAD 7-74779110-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.52
- MetaLR 0.45
- MetaSVM -0.01
- CADD 26.10
- PolyPhen-2 0.75
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.0605
- Literature evidence available