C125Y (p.Cys125Tyr) variant of TNXB (Tenascin-X)
C125Y (p.Cys125Tyr) in TNXB (Tenascin-X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
C125Y (p.Cys125Tyr) variant details
- p.Cys125Tyr
- ExAC rs770463109
- TOPMed rs770463109
- gnomAD rs770463109
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.40
- ESM-1b 1.00
- AlphaMissense 0.86
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available