V39M (p.Val39Met) variant of NCF1 (Neutrophil cytosol factor 1)
V39M (p.Val39Met) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V39M (p.Val39Met) variant details
- p.Val39Met
- ExAC rs782544408
- gnomAD rs782544408
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.22
- MetaLR 0.47
- MetaSVM 0.22
- CADD 21.60
- PolyPhen-2 0.19
- SIFT 0.11
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score 0.0072