R43C (p.Arg43Cys) variant of NCF1 (Neutrophil cytosol factor 1)
R43C (p.Arg43Cys) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R43C (p.Arg43Cys) variant details
- p.Arg43Cys
- ExAC rs781786929
- gnomAD rs781786929
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.32
- MetaLR 0.62
- MetaSVM -0.24
- CADD 21.40
- PolyPhen-2 0.15
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.156