R4074C (p.Arg4074Cys) variant of TNXB (Tenascin-X)
R4074C (p.Arg4074Cys) in TNXB (Tenascin-X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Ehlers-Danlos syndrome due to tenascin-X deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R4074C (p.Arg4074Cys) variant details
- p.Arg4074Cys
- rs587777682
- ClinGen CA170653
- NCI-TCGA Cosmic COSV6447
- cosmic curated COSV64478
- Pathogenic
- Ehlers-Danlos syndrome due to tenascin-X deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.80
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Ehlers-Danlos syndrome due to tenascin-X deficiency)
- EBI: Pathogenic (in EDSCLL1)
- UniProt: Pathogenic (in EDSCLL1)
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: Compound heterozygous mutations of the TNXB gene cause primary myopathy. (PMID 23768946)
- Cited in: TNXB-Related Classical-Like Ehlers-Danlos Syndrome. (PMID 36108117)