V40L (p.Val40Leu) variant of NCF4 (Neutrophil cytosol factor 4)
V40L (p.Val40Leu) in NCF4 (Neutrophil cytosol factor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
V40L (p.Val40Leu) variant details
- p.Val40Leu
- Ensembl rs1939887013
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.14
- MetaLR 0.08
- MetaSVM -1.01
- CADD 24.30
- PolyPhen-2 0.01
- SIFT 0.22
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available