A1009V (p.Ala1009Val) variant of TERT (Telomerase reverse transcriptase)
A1009V (p.Ala1009Val) 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 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
A1009V (p.Ala1009Val) variant details
- p.Ala1009Val
- rs866575708
- ClinGen CA359068797
- ClinVar RCV001376142
- ClinVar RCV002550227
- Likely pathogenic
- Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2; Pul
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.64
- MetaLR 0.56
- MetaSVM 0.35
- CADD 24.90
- PolyPhen-2 0.70
- SIFT 0.13
- ClinVar: Likely pathogenic (Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)
- Cited in: Pulmonary Fibrosis Predisposition Overview. (PMID 20301408)