R8G (p.Arg8Gly) variant of TERT (Telomerase reverse transcriptase)
R8G (p.Arg8Gly) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R8G (p.Arg8Gly) variant details
- p.Arg8Gly
- rs1579599353
- ClinGen CA359059950
- ClinVar RCV002535875
- Ensembl rs1579599353
- Uncertain significance
- Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.37
- MetaLR 0.68
- MetaSVM -0.26
- CADD 21.90
- PolyPhen-2 0.03
- SIFT 0.04
- ClinVar: Uncertain significance (Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmona)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)