E20V (p.Glu20Val) variant of TERT (Telomerase reverse transcriptase)
E20V (p.Glu20Val) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and structural context.
E20V (p.Glu20Val) variant details
- p.Glu20Val
- Ensembl rs2126692581
- Uncertain significance
- Missense
- MetaLR 0.51
- MetaSVM -0.50
- SIFT 0.19
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available