R42G (p.Arg42Gly) variant of NCF1 (Neutrophil cytosol factor 1)
R42G (p.Arg42Gly) in NCF1 (Neutrophil cytosol factor 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R42G (p.Arg42Gly) variant details
- p.Arg42Gly
- rs1554413138
- gnomAD 7-74777316-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.53
- CADD 24.90
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.107
- Literature evidence available