M27T (p.Met27Thr) variant of NCF1 (Neutrophil cytosol factor 1)
M27T (p.Met27Thr) 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.
M27T (p.Met27Thr) variant details
- p.Met27Thr
- ExAC rs782052125
- TOPMed rs782052125
- gnomAD rs782052125
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.36
- MetaLR 0.46
- MetaSVM -0.01
- CADD 25.50
- PolyPhen-2 0.93
- SIFT 0.01
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.946