C143Y (p.Cys143Tyr) variant of TNXB (Tenascin-X)
C143Y (p.Cys143Tyr) in TNXB (Tenascin-X) 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 0.72 / 1. The record also includes population frequency data and structural context.
C143Y (p.Cys143Tyr) variant details
- p.Cys143Tyr
- rs1178974021
- gnomAD rs1178974021
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.07
- MetaLR 0.23
- MetaSVM -0.76
- CADD 26.20
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available