Y74D (p.Tyr74Asp) variant of NCF2 (Neutrophil cytosol factor 2)
Y74D (p.Tyr74Asp) in NCF2 (Neutrophil cytosol factor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Y74D (p.Tyr74Asp) variant details
- p.Tyr74Asp
- gnomAD rs1673379582
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- REVEL 0.92
- MetaLR 0.64
- MetaSVM 0.62
- CADD 28.70
- SIFT 0.16
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- NCF2 PB1 domain domainome 1.0: score -0.7