R48H (p.Arg48His) variant of TERT (Telomerase reverse transcriptase)
R48H (p.Arg48His) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R48H (p.Arg48His) variant details
- p.Arg48His
- rs1751291943
- ClinGen CA359059074
- ClinVar RCV002554407
- Ensembl rs1751291943
- Uncertain significance
- Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.58
- MetaLR 0.86
- MetaSVM 0.35
- CADD 25.10
- PolyPhen-2 0.87
- SIFT 0.03
- 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)