R11G (p.Arg11Gly) variant of TERT (Telomerase reverse transcriptase)
R11G (p.Arg11Gly) in TERT (Telomerase reverse transcriptase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
R11G (p.Arg11Gly) variant details
- p.Arg11Gly
- Ensembl rs2126692899
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.52
- MetaLR 0.80
- MetaSVM 0.70
- CADD 23.00
- PolyPhen-2 0.11
- SIFT 0.03
- Population evidence available
- Structural context available