Y53H (p.Tyr53His) variant of NCF4 (Neutrophil cytosol factor 4)
Y53H (p.Tyr53His) in NCF4 (Neutrophil cytosol factor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
Y53H (p.Tyr53His) variant details
- p.Tyr53His
- ExAC rs747769633
- gnomAD rs747769633
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.35
- MetaLR 0.25
- MetaSVM -0.70
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.06
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available