I60T (p.Ile60Thr) variant of NCF1 (Neutrophil cytosol factor 1)
I60T (p.Ile60Thr) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I60T (p.Ile60Thr) variant details
- p.Ile60Thr
- gnomAD rs1207998330
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.41
- MetaLR 0.45
- MetaSVM -0.10
- CADD 24.40
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.0208