Y41H (p.Tyr41His) variant of NCF1 (Neutrophil cytosol factor 1)
Y41H (p.Tyr41His) in NCF1 (Neutrophil cytosol factor 1) 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, published literature, and structural context.
Y41H (p.Tyr41His) variant details
- p.Tyr41His
- gnomAD 7-74777315-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.52
- MetaLR 0.58
- MetaSVM 0.34
- CADD 25.60
- PolyPhen-2 0.48
- SIFT 0.11
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.401
- Literature evidence available