R42K (p.Arg42Lys) variant of NCF1 (Neutrophil cytosol factor 1)
R42K (p.Arg42Lys) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R42K (p.Arg42Lys) variant details
- p.Arg42Lys
- gnomAD 7-74778332-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- CADD 3.62
- SIFT 0.75
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.107
- Literature evidence available