R19G (p.Arg19Gly) variant of TERT (Telomerase reverse transcriptase)
R19G (p.Arg19Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R19G (p.Arg19Gly) variant details
- p.Arg19Gly
- rs2126692636
- ClinGen CA359059672
- ClinVar RCV004560105
- Ensembl rs2126692636
- Uncertain significance
- Dyskeratosis congenita
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.66
- MetaLR 0.79
- MetaSVM 0.43
- CADD 21.50
- PolyPhen-2 0.40
- SIFT 0.31
- ClinVar: Uncertain significance (Dyskeratosis congenita)
- 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)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)