E12D (p.Glu12Asp) variant of NCF2 (Neutrophil cytosol factor 2)
E12D (p.Glu12Asp) in NCF2 (Neutrophil cytosol factor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E12D (p.Glu12Asp) variant details
- p.Glu12Asp
- TOPMed rs1673584126
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.45
- MetaLR 0.47
- MetaSVM -0.49
- CADD 22.90
- PolyPhen-2 0.62
- SIFT 0.10
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- NCF2 SH3 domain domainome 1.0: score -0.841