R631W (p.Arg631Trp) variant of TERT (Telomerase reverse transcriptase)
R631W (p.Arg631Trp) 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 Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis; not. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
R631W (p.Arg631Trp) variant details
- p.Arg631Trp
- rs1194223999
- ClinGen CA359081468
- cosmic curated COSV10811
- ClinVar RCV001172450
- Pathogenic/Likely pathogenic
- Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis; not
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- AlphaMissense 0.57
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Pathogenic/Likely pathogenic (Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmona)
- EBI: Pathogenic (in AA)
- UniProt: Pathogenic (in AA)
- Structural context available
- Cited in: CEBPA-Associated Familial Acute Myeloid Leukemia (AML). (PMID 20963938)
- Cited in: NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. (PMID 22138009)