A128V (p.Ala128Val) variant of TNXB (Tenascin-X)
A128V (p.Ala128Val) 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 0.14 / 1. The record also includes population frequency data and structural context.
A128V (p.Ala128Val) variant details
- p.Ala128Val
- Ensembl rs1562879346
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 12.40
- PolyPhen-2 0.16
- SIFT 0.08
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available