Y60N (p.Tyr60Asn) variant of TNXB (Tenascin-X)
Y60N (p.Tyr60Asn) 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 0.87 / 1. The record also includes structural context.
Y60N (p.Tyr60Asn) variant details
- p.Tyr60Asn
- rs2483772459
- ClinGen CA363492702
- ClinVar RCV004524362
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- ESM-1b 1.00
- AlphaMissense 0.71
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available