R865H (p.Arg865His) variant of TERT (Telomerase reverse transcriptase)
R865H (p.Arg865His) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1; Dyskeratosis. 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.
R865H (p.Arg865His) variant details
- p.Arg865His
- rs121918666
- ClinGen CA122665
- ClinVar RCV000013573
- ClinVar RCV000032385
- Pathogenic/Likely pathogenic
- Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1; Dyskeratosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- REVEL 0.94
- MetaLR 0.97
- MetaSVM 1.08
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Pulmonary fibrosis and/or bone marrow failure, Telomere-related,)
- EBI: Pathogenic (in PFBMFT1)
- UniProt: Pathogenic (in PFBMFT1)
- Population evidence available
- Structural context available
- Cited in: Adult-onset pulmonary fibrosis caused by mutations in telomerase. (PMID 17460043)
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)