V25L (p.Val25Leu) variant of NCF1 (Neutrophil cytosol factor 1)
V25L (p.Val25Leu) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V25L (p.Val25Leu) variant details
- p.Val25Leu
- ExAC rs782272331
- gnomAD rs782272331
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.24
- MetaLR 0.49
- MetaSVM -0.01
- CADD 32.00
- PolyPhen-2 0.65
- SIFT 0.25
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.904