C7Y (p.Cys7Tyr) variant of TERT (Telomerase reverse transcriptase)
C7Y (p.Cys7Tyr) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
C7Y (p.Cys7Tyr) variant details
- p.Cys7Tyr
- rs1751301663
- ClinGen CA359059971
- ClinVar RCV002510764
- Ensembl rs1751301663
- Uncertain significance
- Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.50
- MetaLR 0.86
- MetaSVM 0.88
- CADD 24.10
- PolyPhen-2 0.52
- SIFT 0.03
- ClinVar: Uncertain significance (Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmona)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)