S11C (p.Ser11Cys) variant of TNXB (Tenascin-X)
S11C (p.Ser11Cys) in TNXB (Tenascin-X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Ehlers-Danlos syndrome due to tenascin-X deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
S11C (p.Ser11Cys) variant details
- p.Ser11Cys
- rs1416828643
- ClinGen CA363493778
- ClinVar RCV002293284
- TOPMed rs1416828643
- Likely pathogenic
- Ehlers-Danlos syndrome due to tenascin-X deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.31
- MetaSVM -0.76
- CADD 13.30
- ClinVar: Likely pathogenic (Ehlers-Danlos syndrome due to tenascin-X deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.00018)
- Structural context available
- Cited in: TNXB-Related Classical-Like Ehlers-Danlos Syndrome. (PMID 36108117)