A130V (p.Ala130Val) variant of TERT (Telomerase reverse transcriptase)
A130V (p.Ala130Val) 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 Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis. The record also includes population frequency data, published literature, and structural context.
A130V (p.Ala130Val) variant details
- p.Ala130Val
- rs1751253944
- ClinGen CA359058127
- ClinVar RCV003786505
- TOPMed rs1751253944
- Likely pathogenic
- Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis
- Missense
- ClinVar: Likely pathogenic (Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmona)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)