E668D (p.Glu668Asp) variant of TERT (Telomerase reverse transcriptase)
E668D (p.Glu668Asp) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hepatocellular carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
E668D (p.Glu668Asp) variant details
- p.Glu668Asp
- rs1554040964
- ClinGen CA359080712
- ClinVar RCV000499860
- Ensembl rs1554040964
- Pathogenic
- Hepatocellular carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.61
- MetaLR 0.95
- MetaSVM 1.04
- CADD 22.90
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Hepatocellular carcinoma)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available