R15H (p.Arg15His) variant of TERT (Telomerase reverse transcriptase)
R15H (p.Arg15His) 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 not provided; Dyskeratosis congenita. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R15H (p.Arg15His) variant details
- p.Arg15His
- rs2126692755
- ClinGen CA359059820
- ClinVar RCV003441629
- ClinVar RCV005505671
- Uncertain significance
- not provided; Dyskeratosis congenita
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.67
- MetaLR 0.82
- MetaSVM 0.77
- CADD 23.80
- PolyPhen-2 0.91
- SIFT 0.11
- ClinVar: Uncertain significance (not provided; 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)