T33I (p.Thr33Ile) variant of TNXB (Tenascin-X)
T33I (p.Thr33Ile) 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 0.38 / 1. The record also includes population frequency data and structural context.
T33I (p.Thr33Ile) variant details
- p.Thr33Ile
- ESP rs377701017
- ExAC rs377701017
- TOPMed rs377701017
- gnomAD rs377701017
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.27
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available