R11L (p.Arg11Leu) variant of TERT (Telomerase reverse transcriptase)
R11L (p.Arg11Leu) 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 0.60 / 1. The record also includes population frequency data and structural context.
R11L (p.Arg11Leu) variant details
- p.Arg11Leu
- Ensembl rs2126692884
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.52
- MetaLR 0.70
- MetaSVM 0.19
- CADD 22.40
- PolyPhen-2 0.90
- SIFT 0.69
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available