A48E (p.Ala48Glu) variant of TRDN (Triadin)
A48E (p.Ala48Glu) in TRDN (Triadin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
A48E (p.Ala48Glu) variant details
- p.Ala48Glu
- rs1278830566
- ClinGen CA365569202
- ClinVar RCV003036969
- TOPMed rs1278830566
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.34
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available