R48C (p.Arg48Cys) variant of TERT (Telomerase reverse transcriptase)
R48C (p.Arg48Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R48C (p.Arg48Cys) variant details
- p.Arg48Cys
- rs1554043151
- ClinGen CA359059080
- cosmic curated COSV57240
- ClinVar RCV002560707
- Uncertain significance
- Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.72
- MetaLR 0.87
- MetaSVM 0.97
- CADD 24.00
- PolyPhen-2 0.87
- SIFT 0.07
- ClinVar: Uncertain significance (Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.8e-06)
- Structural context available
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)