G42W (p.Gly42Trp) variant of TERT (Telomerase reverse transcriptase)
G42W (p.Gly42Trp) 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 0.61 / 1. The record also includes population frequency data and structural context.
G42W (p.Gly42Trp) variant details
- p.Gly42Trp
- Ensembl rs1751293669
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.55
- MetaLR 0.95
- MetaSVM 1.21
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available