L54L (p.Leu54Leu) variant of NCF1 (Neutrophil cytosol factor 1)
L54L (p.Leu54Leu) in NCF1 (Neutrophil cytosol factor 1) is a synonymous 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.
L54L (p.Leu54Leu) variant details
- p.Leu54Leu
- rs1796513392
- gnomAD 7-74778387-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.418
- CADD 3.58
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -1.07
- Literature evidence available