R631Q (p.Arg631Gln) variant of TERT (Telomerase reverse transcriptase)
R631Q (p.Arg631Gln) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.94 / 1. The record also includes published literature and structural context.
R631Q (p.Arg631Gln) variant details
- p.Arg631Gln
- rs199422294
- ClinGen CA128724
- ClinVar RCV000022783
- ClinVar RCV000032370
- Pathogenic
- Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1; Dyskeratosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- AlphaMissense 0.97
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Pathogenic (Pulmonary fibrosis and/or bone marrow failure, Telomere-related,)
- EBI: Pathogenic (in AA)
- UniProt: Pathogenic (in AA)
- Structural context available
- Cited in: Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations. (PMID 18460650)
- Cited in: Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia. (PMID 19760749)