L35R (p.Leu35Arg) variant of NCF1 (Neutrophil cytosol factor 1)
L35R (p.Leu35Arg) 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, published literature, and structural context.
L35R (p.Leu35Arg) variant details
- p.Leu35Arg
- rs1398655666
- gnomAD 7-74778335-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- CADD 5.81
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.199
- Literature evidence available