R19C (p.Arg19Cys) variant of TERT (Telomerase reverse transcriptase)
R19C (p.Arg19Cys) 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.
R19C (p.Arg19Cys) variant details
- p.Arg19Cys
- Ensembl rs2126692636
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.67
- MetaLR 0.86
- MetaSVM 0.82
- CADD 25.70
- PolyPhen-2 0.87
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available