A97V (p.Ala97Val) variant of TNXB (Tenascin-X)
A97V (p.Ala97Val) 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 0.47 / 1. The record also includes population frequency data and structural context.
A97V (p.Ala97Val) variant details
- p.Ala97Val
- rs376816337
- ClinGen CA3735870
- ClinVar RCV004475798
- ESP rs376816337
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.20
- CADD 25.20
- PolyPhen-2 0.98
- 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 5.5e-06)
- Structural context available