A25D (p.Ala25Asp) variant of NCF2 (Neutrophil cytosol factor 2)
A25D (p.Ala25Asp) in NCF2 (Neutrophil cytosol factor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A25D (p.Ala25Asp) variant details
- p.Ala25Asp
- ExAC rs761962182
- gnomAD rs761962182
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.93
- MetaLR 0.77
- MetaSVM 0.75
- CADD 29.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- NCF2 SH3 domain domainome 1.0: score -1.23