E2825K (p.Glu2825Lys) variant of TNXB (Tenascin-X)
E2825K (p.Glu2825Lys) in TNXB (Tenascin-X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Vesicoureteral reflux 8; not provided; Ehlers-Danlos syndrome due to tenascin-X. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
E2825K (p.Glu2825Lys) variant details
- p.Glu2825Lys
- rs759929653
- ClinGen CA3733822
- cosmic curated COSV64474
- ClinVar RCV001783887
- Likely pathogenic
- Vesicoureteral reflux 8; not provided; Ehlers-Danlos syndrome due to tenascin-X
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.08
- ClinVar: Likely pathogenic (Vesicoureteral reflux 8; not provided; Ehlers-Danlos syndrome du)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: TNXB-Related Classical-Like Ehlers-Danlos Syndrome. (PMID 36108117)