Y41S (p.Tyr41Ser) variant of NCF1 (Neutrophil cytosol factor 1)
Y41S (p.Tyr41Ser) in NCF1 (Neutrophil cytosol factor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Y41S (p.Tyr41Ser) variant details
- p.Tyr41Ser
- gnomAD rs1554413137
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.56
- MetaLR 0.54
- MetaSVM 0.23
- CADD 26.30
- PolyPhen-2 0.52
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- NCF1 SH3 domain domainome 1.0: score -0.401