E68K (p.Glu68Lys) variant of NCF1 (Neutrophil cytosol factor 1)
E68K (p.Glu68Lys) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
E68K (p.Glu68Lys) variant details
- p.Glu68Lys
- gnomAD 7-74779130-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.12
- MetaLR 0.09
- MetaSVM -0.92
- CADD 15.20
- PolyPhen-2 0.06
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available