E20D (p.Glu20Asp) variant of TERT (Telomerase reverse transcriptase)
E20D (p.Glu20Asp) 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 0.27 / 1. The record also includes population frequency data and structural context.
E20D (p.Glu20Asp) variant details
- p.Glu20Asp
- TOPMed rs1751299200
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.20
- MetaLR 0.64
- MetaSVM -0.05
- CADD 19.20
- PolyPhen-2 0.01
- SIFT 0.11
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available