S56C (p.Ser56Cys) variant of TNXB (Tenascin-X)
S56C (p.Ser56Cys) 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 0.51 / 1. The record also includes population frequency data and structural context.
S56C (p.Ser56Cys) variant details
- p.Ser56Cys
- rs751628394
- ClinGen CA3735895
- ClinVar RCV002405999
- ExAC rs751628394
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.36
- ESM-1b 0.27
- AlphaMissense 0.30
- CADD 26.20
- 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 2.7e-06)
- Structural context available