D43G (p.Asp43Gly) variant of TERT (Telomerase reverse transcriptase)
D43G (p.Asp43Gly) in TERT (Telomerase reverse transcriptase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
D43G (p.Asp43Gly) variant details
- p.Asp43Gly
- Ensembl rs1751293266
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.71
- MetaLR 0.82
- MetaSVM 0.66
- CADD 24.70
- PolyPhen-2 0.08
- SIFT 0.00
- Population evidence available
- Structural context available