W10S (p.Trp10Ser) variant of NCF2 (Neutrophil cytosol factor 2)
W10S (p.Trp10Ser) in NCF2 (Neutrophil cytosol factor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, experimental measurements, and structural context.
W10S (p.Trp10Ser) variant details
- p.Trp10Ser
- TOPMed rs1261814657
- gnomAD rs1261814657
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.83
- MetaLR 0.57
- MetaSVM 0.24
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- NCF2 PB1 domain domainome 1.0: score -0.52