E20G (p.Glu20Gly) variant of TERT (Telomerase reverse transcriptase)
E20G (p.Glu20Gly) in TERT (Telomerase reverse transcriptase) 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 0.43 / 1. The record also includes population frequency data and structural context.
E20G (p.Glu20Gly) variant details
- p.Glu20Gly
- rs2126692581
- ClinVar RCV004590616
- Ensembl rs2126692581
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.35
- MetaLR 0.74
- MetaSVM 0.32
- CADD 24.20
- PolyPhen-2 0.15
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available