G42R (p.Gly42Arg) variant of TERT (Telomerase reverse transcriptase)
G42R (p.Gly42Arg) 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; Int. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
G42R (p.Gly42Arg) variant details
- p.Gly42Arg
- rs1751293669
- ClinGen CA359059186
- ClinVar RCV002561671
- Ensembl rs1751293669
- Uncertain significance
- Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2; Int
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.51
- MetaLR 0.94
- MetaSVM 1.21
- CADD 23.80
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Uncertain significance (Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: CEBPA-Associated Familial Acute Myeloid Leukemia (AML). (PMID 20963938)
- Cited in: NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. (PMID 22138009)