R6G (p.Arg6Gly) variant of TERT (Telomerase reverse transcriptase)
R6G (p.Arg6Gly) 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; Dys. 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.
R6G (p.Arg6Gly) variant details
- p.Arg6Gly
- rs1751302097
- ClinGen CA359060013
- ClinVar RCV002552518
- Ensembl rs1751302097
- Uncertain significance
- Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis; Dys
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.43
- MetaLR 0.73
- MetaSVM 0.11
- CADD 22.50
- PolyPhen-2 0.80
- SIFT 0.06
- 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)