A97T (p.Ala97Thr) variant of TNXB (Tenascin-X)
A97T (p.Ala97Thr) in TNXB (Tenascin-X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A97T (p.Ala97Thr) variant details
- p.Ala97Thr
- rs1024919515
- ClinGen CA136908394
- ClinVar RCV002438024
- ClinVar RCV004763418
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.35
- ESM-1b 0.05
- AlphaMissense 0.13
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available