T567M (p.Thr567Met) variant of TERT (Telomerase reverse transcriptase)
T567M (p.Thr567Met) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2; Pul. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
T567M (p.Thr567Met) variant details
- p.Thr567Met
- rs886039438
- ClinGen CA10588391
- ClinVar RCV000255577
- ClinVar RCV002518755
- Likely pathogenic
- Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2; Pul
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.56
- MetaLR 0.30
- MetaSVM -0.54
- CADD 22.80
- PolyPhen-2 0.53
- SIFT 0.97
- ClinVar: Likely pathogenic (Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)