A1040T (p.Ala1040Thr) variant of TERT (Telomerase reverse transcriptase)
A1040T (p.Ala1040Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
A1040T (p.Ala1040Thr) variant details
- p.Ala1040Thr
- rs770144114
- ClinGen CA359068120
- ClinVar RCV002579662
- ClinVar RCV003325413
- Likely pathogenic
- Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- AlphaMissense 0.17
- MetaLR 0.91
- MetaSVM 0.92
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.41
- ClinVar: Likely pathogenic (Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)