D21E (p.Asp21Glu) variant of NCF2 (Neutrophil cytosol factor 2)
D21E (p.Asp21Glu) in NCF2 (Neutrophil cytosol factor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D21E (p.Asp21Glu) variant details
- p.Asp21Glu
- TOPMed rs1673581472
- gnomAD rs1673581472
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.41
- MetaLR 0.20
- MetaSVM -0.85
- CADD 21.20
- PolyPhen-2 0.08
- SIFT 0.40
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- NCF2 SH3 domain domainome 1.0: score -0.787