L54I (p.Leu54Ile) variant of NCF1 (Neutrophil cytosol factor 1)
L54I (p.Leu54Ile) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L54I (p.Leu54Ile) variant details
- p.Leu54Ile
- gnomAD 7-74778364-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- CADD 1.88
- SIFT 0.12
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -1.07
- Literature evidence available