R37G (p.Arg37Gly) variant of TERT (Telomerase reverse transcriptase)
R37G (p.Arg37Gly) 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; Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R37G (p.Arg37Gly) variant details
- p.Arg37Gly
- rs2126692072
- ClinGen CA359059300
- ClinVar RCV002560544
- Ensembl rs2126692072
- Uncertain significance
- Dyskeratosis congenita; Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, a
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.41
- MetaLR 0.79
- MetaSVM 0.01
- CADD 22.80
- PolyPhen-2 0.50
- SIFT 0.11
- ClinVar: Uncertain significance (Dyskeratosis congenita; Idiopathic Pulmonary Fibrosis; Dyskerato)
- 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)