S16T (p.Ser16Thr) variant of TERT (Telomerase reverse transcriptase)
S16T (p.Ser16Thr) 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 0.25 / 1. The record also includes population frequency data and structural context.
S16T (p.Ser16Thr) variant details
- p.Ser16Thr
- Ensembl rs2126692712
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.20
- MetaLR 0.53
- MetaSVM -0.01
- CADD 14.20
- PolyPhen-2 0.04
- SIFT 0.28
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available