V71L (p.Val71Leu) variant of TNXB (Tenascin-X)
V71L (p.Val71Leu) in TNXB (Tenascin-X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Vesicoureteral reflux 8; Ehlers-Danlos syndrome due to tenascin-X deficiency; TN. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
V71L (p.Val71Leu) variant details
- p.Val71Leu
- rs201922477
- ClinGen CA3735888
- ClinVar RCV000585373
- ClinVar RCV002418132
- Uncertain significance
- Vesicoureteral reflux 8; Ehlers-Danlos syndrome due to tenascin-X deficiency; TN
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.35
- ESM-1b 1.00
- AlphaMissense 0.77
- CADD 24.60
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Vesicoureteral reflux 8; Ehlers-Danlos syndrome due to tenascin-)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00053)
- Structural context available
- Cited in: TNXB-Related Classical-Like Ehlers-Danlos Syndrome. (PMID 36108117)