F27L (p.Phe27Leu) variant of TERT (Telomerase reverse transcriptase)
F27L (p.Phe27Leu) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dyskeratosis congenita. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
F27L (p.Phe27Leu) variant details
- p.Phe27Leu
- Ensembl rs2126692389
- Uncertain significance
- Dyskeratosis congenita
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.46
- MetaLR 0.74
- MetaSVM 0.52
- CADD 23.40
- PolyPhen-2 0.76
- SIFT 0.02
- ClinVar: Uncertain significance (Dyskeratosis congenita)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available