R865C (p.Arg865Cys) variant of TERT (Telomerase reverse transcriptase)
R865C (p.Arg865Cys) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2; not. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R865C (p.Arg865Cys) variant details
- p.Arg865Cys
- rs372868296
- ClinGen CA3184446
- ClinVar RCV001268086
- ClinVar RCV002541635
- Conflicting interpretations
- Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2; not
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- REVEL 0.93
- MetaLR 0.97
- MetaSVM 0.90
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal)
- EBI: Pathogenic (in PFBMFT1)
- UniProt: Pathogenic (in PFBMFT1)
- 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)