V791I (p.Val791Ile) variant of TERT (Telomerase reverse transcriptase)
V791I (p.Val791Ile) 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 Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis; Pul. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
V791I (p.Val791Ile) variant details
- p.Val791Ile
- rs141425941
- ClinGen CA044696
- cosmic curated COSV57215
- ClinVar RCV000030627
- Conflicting interpretations
- Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis; Pul
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.25
- MetaLR 0.76
- MetaSVM 0.25
- CADD 10.80
- PolyPhen-2 0.50
- SIFT 0.25
- ClinVar: Conflicting classifications of pathogenicity (Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmona)
- EBI: Pathogenic (in PFBMFT1)
- UniProt: Pathogenic (in PFBMFT1)
- Most common in the HGDP:PATHAN population (allele frequency 0.021)
- 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)