I111T (p.Ile111Thr) variant of NCF2 (Neutrophil cytosol factor 2)
I111T (p.Ile111Thr) in NCF2 (Neutrophil cytosol factor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
I111T (p.Ile111Thr) variant details
- p.Ile111Thr
- ExAC rs771262057
- gnomAD rs771262057
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.29
- MetaLR 0.44
- MetaSVM -0.33
- CADD 23.60
- PolyPhen-2 0.04
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available