S16R (p.Ser16Arg) variant of TERT (Telomerase reverse transcriptase)
S16R (p.Ser16Arg) 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 0.24 / 1. The record also includes population frequency data and structural context.
S16R (p.Ser16Arg) variant details
- p.Ser16Arg
- Ensembl rs1489859089
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.11
- MetaLR 0.55
- MetaSVM -0.23
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.29
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available