E44K (p.Glu44Lys) variant of NCF4 (Neutrophil cytosol factor 4)
E44K (p.Glu44Lys) in NCF4 (Neutrophil cytosol factor 4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
E44K (p.Glu44Lys) variant details
- p.Glu44Lys
- rs900312893
- NCI-TCGA Cosmic COSV9995
- TOPMed rs900312893
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.25
- MetaLR 0.26
- MetaSVM -0.77
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.18
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available