S98L (p.Ser98Leu) variant of TNXB (Tenascin-X)
S98L (p.Ser98Leu) 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 0.42 / 1. The record also includes population frequency data and structural context.
S98L (p.Ser98Leu) variant details
- p.Ser98Leu
- rs1376714004
- ClinGen CA363491886
- ClinVar RCV004475799
- gnomAD rs1376714004
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 23.00
- 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 3.7e-06)
- Structural context available