G8R (p.Gly8Arg) variant of TRDN (Triadin)
G8R (p.Gly8Arg) in TRDN (Triadin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
G8R (p.Gly8Arg) variant details
- p.Gly8Arg
- rs1350873943
- ClinGen CA365567964
- ClinVar RCV004523897
- TOPMed rs1350873943
- Likely pathogenic
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.28
- CADD 36.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Likely pathogenic (Cardiovascular phenotype)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available