F115L (p.Phe115Leu) variant of TERT (Telomerase reverse transcriptase)
F115L (p.Phe115Leu) 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 Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
F115L (p.Phe115Leu) variant details
- p.Phe115Leu
- rs1579598699
- ClinGen CA359058226
- ClinVar RCV001007599
- Ensembl rs1579598699
- Uncertain significance
- Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.45
- CADD 18.60
- PolyPhen-2 0.08
- SIFT 1.00
- ClinVar: Uncertain significance (Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Pulmonary Fibrosis Predisposition Overview. (PMID 20301408)
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)