Y48C (p.Tyr48Cys) variant of NCF1 (Neutrophil cytosol factor 1)
Y48C (p.Tyr48Cys) 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, and structural context.
Y48C (p.Tyr48Cys) variant details
- p.Tyr48Cys
- ESP rs368948045
- gnomAD rs368948045
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.52
- MetaLR 0.57
- MetaSVM 0.29
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.171