K52E (p.Lys52Glu) variant of NCF4 (Neutrophil cytosol factor 4)
K52E (p.Lys52Glu) in NCF4 (Neutrophil cytosol factor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
K52E (p.Lys52Glu) variant details
- p.Lys52Glu
- TOPMed rs1939888361
- gnomAD rs1939888361
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.18
- MetaLR 0.16
- MetaSVM -0.96
- CADD 24.90
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available