A880T (p.Ala880Thr) variant of TERT (Telomerase reverse transcriptase)
A880T (p.Ala880Thr) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis; Pul. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
A880T (p.Ala880Thr) variant details
- p.Ala880Thr
- rs1748613571
- ClinGen CA359073151
- cosmic curated COSV99717
- ClinVar RCV001819918
- Pathogenic/Likely pathogenic
- Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis; Pul
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.74
- MetaLR 0.96
- MetaSVM 1.10
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.11
- ClinVar: Pathogenic/Likely pathogenic (Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmona)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)
- Cited in: Pulmonary Fibrosis Predisposition Overview. (PMID 20301408)