K26R (p.Lys26Arg) variant of TRDN (Triadin)
K26R (p.Lys26Arg) in TRDN (Triadin) 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 0.23 / 1. The record also includes population frequency data and structural context.
K26R (p.Lys26Arg) variant details
- p.Lys26Arg
- rs889510568
- ClinGen CA147302788
- ClinVar RCV002409892
- TOPMed rs889510568
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.05
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available