S98P (p.Ser98Pro) variant of TNXB (Tenascin-X)
S98P (p.Ser98Pro) 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 0.35 / 1. The record also includes population frequency data and structural context.
S98P (p.Ser98Pro) variant details
- p.Ser98Pro
- rs1562879498
- ClinGen CA363491902
- ClinVar RCV004524380
- Ensembl rs1562879498
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 22.90
- PolyPhen-2 0.99
- SIFT 0.08
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.5e-06)
- Structural context available