S51Y (p.Ser51Tyr) variant of NCF4 (Neutrophil cytosol factor 4)
S51Y (p.Ser51Tyr) in NCF4 (Neutrophil cytosol factor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S51Y (p.Ser51Tyr) variant details
- p.Ser51Tyr
- gnomAD 22-36864953-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.30
- MetaLR 0.24
- MetaSVM -0.55
- CADD 24.20
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available