R76H (p.Arg76His) variant of TNXB (Tenascin-X)
R76H (p.Arg76His) in TNXB (Tenascin-X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
R76H (p.Arg76His) variant details
- p.Arg76His
- rs748739924
- ExAC rs748739924
- TOPMed rs748739924
- gnomAD rs748739924
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.29
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available