A25T (p.Ala25Thr) variant of TERT (Telomerase reverse transcriptase)
A25T (p.Ala25Thr) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A25T (p.Ala25Thr) variant details
- p.Ala25Thr
- Ensembl rs2126692449
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.28
- MetaLR 0.79
- MetaSVM 0.61
- CADD 22.20
- PolyPhen-2 0.52
- SIFT 0.15
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available