A50S (p.Ala50Ser) variant of TNXB (Tenascin-X)
A50S (p.Ala50Ser) 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; not provided; TNXB-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
A50S (p.Ala50Ser) variant details
- p.Ala50Ser
- rs576973691
- ClinGen CA3735898
- ClinVar RCV002389672
- ClinVar RCV002464662
- Uncertain significance
- Cardiovascular phenotype; not provided; TNXB-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.0708
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 0.57
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided; TNXB-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available