E20K (p.Glu20Lys) variant of TERT (Telomerase reverse transcriptase)
E20K (p.Glu20Lys) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
E20K (p.Glu20Lys) variant details
- p.Glu20Lys
- Ensembl rs2126692596
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.34
- MetaLR 0.66
- MetaSVM 0.12
- CADD 23.10
- PolyPhen-2 0.12
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available