A64E (p.Ala64Glu) variant of NCF1 (Neutrophil cytosol factor 1)
A64E (p.Ala64Glu) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A64E (p.Ala64Glu) variant details
- p.Ala64Glu
- gnomAD 7-74779119-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.17
- MetaLR 0.07
- MetaSVM -1.00
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 0.63
- Population evidence available
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.0245
- Literature evidence available