Y41C (p.Tyr41Cys) variant of NCF1 (Neutrophil cytosol factor 1)
Y41C (p.Tyr41Cys) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y41C (p.Tyr41Cys) variant details
- p.Tyr41Cys
- gnomAD 7-74777316-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.48
- MetaLR 0.56
- MetaSVM 0.24
- CADD 26.40
- PolyPhen-2 0.57
- SIFT 0.00
- Population evidence available
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.401
- Literature evidence available