D43E (p.Asp43Glu) variant of TERT (Telomerase reverse transcriptase)
D43E (p.Asp43Glu) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
D43E (p.Asp43Glu) variant details
- p.Asp43Glu
- ExAC rs772537721
- TOPMed rs772537721
- gnomAD rs772537721
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.65
- MetaLR 0.84
- MetaSVM 0.81
- CADD 23.20
- PolyPhen-2 0.08
- SIFT 0.03
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available