A45G (p.Ala45Gly) variant of TERT (Telomerase reverse transcriptase)
A45G (p.Ala45Gly) 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.
A45G (p.Ala45Gly) variant details
- p.Ala45Gly
- Ensembl rs1751292811
- Uncertain significance
- Missense
- MetaLR 0.71
- MetaSVM -0.13
- SIFT 0.24
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available