E20Q (p.Glu20Gln) variant of TERT (Telomerase reverse transcriptase)
E20Q (p.Glu20Gln) 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 Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E20Q (p.Glu20Gln) variant details
- p.Glu20Gln
- rs2126692596
- ClinGen CA359059647
- ClinVar RCV002548637
- Ensembl rs2126692596
- Uncertain significance
- Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.21
- MetaLR 0.51
- MetaSVM -0.50
- CADD 18.80
- PolyPhen-2 0.03
- SIFT 0.19
- ClinVar: Uncertain significance (Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmona)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)