T91I (p.Thr91Ile) variant of TNXB (Tenascin-X)
T91I (p.Thr91Ile) in TNXB (Tenascin-X) is a missense change. Clinical records from ClinVar 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 0.39 / 1. The record also includes population frequency data and structural context.
T91I (p.Thr91Ile) variant details
- p.Thr91Ile
- ExAC rs758481959
- TOPMed rs758481959
- gnomAD rs758481959
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.24
- ESM-1b 0.69
- AlphaMissense 0.22
- CADD 22.40
- PolyPhen-2 0.54
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available