R29Q (p.Arg29Gln) variant of TNXB (Tenascin-X)
R29Q (p.Arg29Gln) in TNXB (Tenascin-X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8; Ca. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R29Q (p.Arg29Gln) variant details
- p.Arg29Gln
- rs184878358
- ClinGen CA3735913
- ClinVar RCV001566921
- ClinVar RCV002276796
- Benign/Likely benign
- Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8; Ca
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 24.40
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Benign/Likely benign (Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicourete)
- EBI: Benign (in EDSCLL1)
- UniProt: Benign (in EDSCLL1)
- Most common in the HGDP:SHE population (allele frequency 0.056)
- Structural context available
- Cited in: Update on the Diagnosis and Management of Inherited Aortopathies, Including Marfan Syndrome. (PMID 28161018)
- Cited in: TNXB-Related Classical-Like Ehlers-Danlos Syndrome. (PMID 36108117)