M27V (p.Met27Val) variant of NCF1 (Neutrophil cytosol factor 1)
M27V (p.Met27Val) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M27V (p.Met27Val) variant details
- p.Met27Val
- ExAC rs782039216
- gnomAD rs782039216
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.22
- MetaLR 0.30
- MetaSVM -0.58
- CADD 23.20
- PolyPhen-2 0.44
- SIFT 0.21
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.946