C127Y (p.Cys127Tyr) variant of SERPINC1 (Antithrombin-III)
C127Y (p.Cys127Tyr) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in AT3D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
C127Y (p.Cys127Tyr) variant details
- p.Cys127Tyr
- NCI-TCGA TCGA novel
- TOPMed rs1657908172
- gnomAD rs1657908172
- Variant assessed as somatic; moderate impact.
- in AT3D
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.79
- CADD 26.90
- UniProt: Variant assessed as somatic; moderate impact. (in AT3D)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available