S11G (p.Ser11Gly) variant of TNXB (Tenascin-X)
S11G (p.Ser11Gly) 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 0.28 / 1. The record also includes structural context.
S11G (p.Ser11Gly) variant details
- p.Ser11Gly
- rs1416828643
- ClinGen CA363493799
- ClinVar RCV004524384
- TOPMed rs1416828643
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.31
- MetaSVM -0.76
- SIFT 0.07
- EVE 0.13
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available