R29W (p.Arg29Trp) variant of TNXB (Tenascin-X)
R29W (p.Arg29Trp) in TNXB (Tenascin-X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R29W (p.Arg29Trp) variant details
- p.Arg29Trp
- rs368512272
- ClinGen CA3735914
- ClinVar RCV001762809
- ClinVar RCV003323923
- Uncertain significance
- not provided; Cardiovascular phenotype; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.56
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype; not specified)
- EBI: Pathogenic (in EDSCLL1)
- UniProt: Pathogenic (in EDSCLL1)
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: Elastic fiber abnormalities in hypermobility type Ehlers-Danlos syndrome patients with tenascin-X mutations. (PMID 15733269)
- Cited in: A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. (PMID 11642233)