G35A (p.Gly35Ala) variant of TERT (Telomerase reverse transcriptase)
G35A (p.Gly35Ala) 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 0.46 / 1. The record also includes population frequency data and structural context.
G35A (p.Gly35Ala) variant details
- p.Gly35Ala
- Ensembl rs2126692114
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.44
- MetaLR 0.92
- MetaSVM 0.63
- CADD 16.10
- PolyPhen-2 0.07
- SIFT 0.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available