V867M (p.Val867Met) variant of TERT (Telomerase reverse transcriptase)
V867M (p.Val867Met) 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; Pul. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
V867M (p.Val867Met) variant details
- p.Val867Met
- rs201159197
- ClinGen CA044715
- ClinVar RCV000030627
- ClinVar RCV002327153
- Pathogenic/Likely pathogenic
- Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis; Pul
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- AlphaMissense 0.47
- MetaLR 0.93
- MetaSVM 0.57
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Pathogenic/Likely pathogenic (Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmona)
- EBI: Pathogenic (in PFBMFT1)
- UniProt: Pathogenic (in PFBMFT1)
- Population evidence available
- Structural context available
- Cited in: Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary… (PMID 21483807)
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)