I60M (p.Ile60Met) variant of NCF1 (Neutrophil cytosol factor 1)
I60M (p.Ile60Met) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I60M (p.Ile60Met) variant details
- p.Ile60Met
- gnomAD 7-74779108-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.34
- MetaLR 0.35
- MetaSVM -0.49
- CADD 9.99
- PolyPhen-2 0.97
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.0208
- Literature evidence available