L54V (p.Leu54Val) variant of NCF1 (Neutrophil cytosol factor 1)
L54V (p.Leu54Val) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L54V (p.Leu54Val) variant details
- p.Leu54Val
- Ensembl rs1197399867
- Missense
- Variant Prioritization Score for Impact Estimate 0.0913
- CADD 4.74
- SIFT 0.31
- Population evidence available
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -1.07