V39L (p.Val39Leu) variant of NCF1 (Neutrophil cytosol factor 1)
V39L (p.Val39Leu) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V39L (p.Val39Leu) variant details
- p.Val39Leu
- ExAC rs782544408
- gnomAD rs782544408
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.10
- MetaLR 0.11
- MetaSVM -0.94
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score 0.0072