D21Y (p.Asp21Tyr) variant of NCF2 (Neutrophil cytosol factor 2)
D21Y (p.Asp21Tyr) in NCF2 (Neutrophil cytosol factor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D21Y (p.Asp21Tyr) variant details
- p.Asp21Tyr
- ExAC rs773175637
- gnomAD rs773175637
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.79
- MetaLR 0.56
- MetaSVM 0.36
- CADD 27.90
- 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 -0.787