R19S (p.Arg19Ser) variant of TERT (Telomerase reverse transcriptase)
R19S (p.Arg19Ser) 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 0.50 / 1. The record also includes population frequency data and structural context.
R19S (p.Arg19Ser) variant details
- p.Arg19Ser
- Ensembl rs2126692636
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.51
- MetaLR 0.83
- MetaSVM 0.54
- CADD 21.30
- PolyPhen-2 0.40
- SIFT 0.36
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available