I60V (p.Ile60Val) variant of NCF1 (Neutrophil cytosol factor 1)
I60V (p.Ile60Val) 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, published literature, and structural context.
I60V (p.Ile60Val) variant details
- p.Ile60Val
- gnomAD 7-74779106-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.13
- MetaLR 0.18
- MetaSVM -0.92
- CADD 17.30
- PolyPhen-2 0.08
- SIFT 0.16
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.0208
- Literature evidence available