C7F (p.Cys7Phe) variant of TERT (Telomerase reverse transcriptase)
C7F (p.Cys7Phe) 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 0.49 / 1. The record also includes population frequency data and structural context.
C7F (p.Cys7Phe) variant details
- p.Cys7Phe
- Ensembl rs1751301663
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.33
- MetaLR 0.78
- MetaSVM 0.68
- CADD 21.00
- PolyPhen-2 0.04
- SIFT 0.11
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available