E12A (p.Glu12Ala) variant of NCF2 (Neutrophil cytosol factor 2)
E12A (p.Glu12Ala) in NCF2 (Neutrophil cytosol factor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E12A (p.Glu12Ala) variant details
- p.Glu12Ala
- TOPMed rs1673584287
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.60
- MetaLR 0.52
- MetaSVM 0.26
- CADD 27.50
- PolyPhen-2 0.96
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- NCF2 SH3 domain domainome 1.0: score -0.841