I58N (p.Ile58Asn) variant of TRDN (Triadin)
I58N (p.Ile58Asn) 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 0.51 / 1. The record also includes population frequency data and structural context.
I58N (p.Ile58Asn) variant details
- p.Ile58Asn
- rs758502934
- ClinGen CA3984455
- ClinVar RCV002401387
- ExAC rs758502934
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.40
- CADD 29.20
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available