E49A (p.Glu49Ala) variant of NCF1 (Neutrophil cytosol factor 1)
E49A (p.Glu49Ala) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E49A (p.Glu49Ala) variant details
- p.Glu49Ala
- gnomAD 7-74777340-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.26
- MetaLR 0.44
- MetaSVM -0.17
- CADD 21.70
- PolyPhen-2 0.33
- SIFT 0.17
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.834
- Literature evidence available