I55L (p.Ile55Leu) variant of NCF4 (Neutrophil cytosol factor 4)
I55L (p.Ile55Leu) in NCF4 (Neutrophil cytosol factor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
I55L (p.Ile55Leu) variant details
- p.Ile55Leu
- gnomAD 22-36864964-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.34
- MetaLR 0.18
- MetaSVM -0.83
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available