R38Q (p.Arg38Gln) variant of TNXB (Tenascin-X)
R38Q (p.Arg38Gln) 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 Vesicoureteral reflux 8; Ehlers-Danlos syndrome due to tenascin-X deficiency; no. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R38Q (p.Arg38Gln) variant details
- p.Arg38Gln
- rs149502087
- ClinGen CA3735905
- cosmic curated COSV99056
- ClinVar RCV001586742
- Benign/Likely benign
- Vesicoureteral reflux 8; Ehlers-Danlos syndrome due to tenascin-X deficiency; no
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 23.40
- PolyPhen-2 0.59
- SIFT 0.00
- ClinVar: Benign/Likely benign (Vesicoureteral reflux 8; Ehlers-Danlos syndrome due to tenascin-)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:LWK population (allele frequency 0.07)
- 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)