L38M (p.Leu38Met) variant of TERT (Telomerase reverse transcriptase)
L38M (p.Leu38Met) 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 not provided; Dyskeratosis congenita; Idiopathic Pulmonary Fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L38M (p.Leu38Met) variant details
- p.Leu38Met
- rs1004308241
- ClinGen CA112915579
- ClinVar RCV002547522
- ClinVar RCV004727183
- Uncertain significance
- not provided; Dyskeratosis congenita; Idiopathic Pulmonary Fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.32
- MetaLR 0.83
- MetaSVM 0.31
- CADD 24.40
- PolyPhen-2 0.80
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Dyskeratosis congenita; Idiopathic Pulmonary Fibro)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)