I109S (p.Ile109Ser) variant of TNXB (Tenascin-X)
I109S (p.Ile109Ser) 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 0.31 / 1. The record also includes population frequency data and structural context.
I109S (p.Ile109Ser) variant details
- p.Ile109Ser
- rs2483770767
- ClinGen CA363491641
- ClinVar RCV002325002
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.65
- CADD 23.10
- PolyPhen-2 0.12
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available