V14L (p.Val14Leu) variant of NCF2 (Neutrophil cytosol factor 2)
V14L (p.Val14Leu) in NCF2 (Neutrophil cytosol factor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V14L (p.Val14Leu) variant details
- p.Val14Leu
- ExAC rs763816212
- TOPMed rs763816212
- gnomAD rs763816212
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.43
- MetaLR 0.52
- MetaSVM 0.01
- CADD 26.00
- PolyPhen-2 0.85
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- NCF2 SH3 domain domainome 1.0: score -0.297