P2A (p.Pro2Ala) variant of TERT (Telomerase reverse transcriptase)
P2A (p.Pro2Ala) 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 Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2. The record also includes published literature and structural context.
P2A (p.Pro2Ala) variant details
- p.Pro2Ala
- rs1751303585
- ClinGen CA359060101
- ClinVar RCV002552776
- ClinVar RCV003475137
- Uncertain significance
- Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2
- Missense
- ClinVar: Uncertain significance (Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)