R76C (p.Arg76Cys) variant of TNXB (Tenascin-X)
R76C (p.Arg76Cys) 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 specified; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
R76C (p.Arg76Cys) variant details
- p.Arg76Cys
- rs768199265
- ClinGen CA3735885
- NCI-TCGA Cosmic COSV1009
- cosmic curated COSV10092
- Uncertain significance
- not specified; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.82
- CADD 29.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.7e-05)
- Structural context available