L14M (p.Leu14Met) variant of TERT (Telomerase reverse transcriptase)
L14M (p.Leu14Met) 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, autosomal dominant 2; Idiopathic Pulmonary Fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
L14M (p.Leu14Met) variant details
- p.Leu14Met
- rs2126692794
- ClinGen CA359059843
- ClinVar RCV003781034
- Ensembl rs2126692794
- Uncertain significance
- Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.63
- MetaLR 0.85
- MetaSVM 0.63
- CADD 22.70
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmona)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)