C121Y (p.Cys121Tyr) variant of NCF2 (Neutrophil cytosol factor 2)
C121Y (p.Cys121Tyr) in NCF2 (Neutrophil cytosol factor 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
C121Y (p.Cys121Tyr) variant details
- p.Cys121Tyr
- NCI-TCGA TCGA novel
- TOPMed rs1672853724
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.60
- MetaLR 0.45
- MetaSVM 0.17
- CADD 25.80
- PolyPhen-2 0.97
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available