L96H (p.Leu96His) variant of TNXB (Tenascin-X)
L96H (p.Leu96His) in TNXB (Tenascin-X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8. 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.
L96H (p.Leu96His) variant details
- p.Leu96His
- rs1780503217
- ClinGen CA363491935
- ClinVar RCV001280956
- TOPMed rs1780503217
- Uncertain significance
- Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.23
- ESM-1b 1.00
- AlphaMissense 0.13
- CADD 23.30
- PolyPhen-2 0.17
- SIFT 0.00
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicourete)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Cited in: TNXB-Related Classical-Like Ehlers-Danlos Syndrome. (PMID 36108117)