V40L (p.Val40Leu) variant of NCF1 (Neutrophil cytosol factor 1)
V40L (p.Val40Leu) in NCF1 (Neutrophil cytosol factor 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V40L (p.Val40Leu) variant details
- p.Val40Leu
- rs1554413134
- gnomAD 7-74777311-GGT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.483
- CADD 28.80
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.902
- Literature evidence available