E44A (p.Glu44Ala) variant of NCF4 (Neutrophil cytosol factor 4)
E44A (p.Glu44Ala) in NCF4 (Neutrophil cytosol factor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
E44A (p.Glu44Ala) variant details
- p.Glu44Ala
- gnomAD 22-36864932-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.44
- MetaLR 0.33
- MetaSVM -0.30
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available