L96P (p.Leu96Pro) variant of TNXB (Tenascin-X)
L96P (p.Leu96Pro) in TNXB (Tenascin-X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
L96P (p.Leu96Pro) variant details
- p.Leu96Pro
- TOPMed rs1780503217
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- ESM-1b 0.00
- AlphaMissense 0.03
- ClinVar: Likely benign (Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available