G66A (p.Gly66Ala) variant of TNXB (Tenascin-X)
G66A (p.Gly66Ala) in TNXB (Tenascin-X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; Ehlers-Danlos syndrome due to tenascin-X. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G66A (p.Gly66Ala) variant details
- p.Gly66Ala
- rs200569294
- ClinGen CA3735892
- ClinVar RCV002423658
- ClinVar RCV003324856
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Ehlers-Danlos syndrome due to tenascin-X
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.24
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Ehlers-Danlos syndrome d)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available
- Cited in: TNXB-Related Classical-Like Ehlers-Danlos Syndrome. (PMID 36108117)