R7H (p.Arg7His) variant of NCF1 (Neutrophil cytosol factor 1)
R7H (p.Arg7His) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R7H (p.Arg7His) variant details
- p.Arg7His
- Ensembl rs1554412875
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.58
- MetaLR 0.51
- MetaSVM 0.11
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.635