G1063S (p.Gly1063Ser) variant of TERT (Telomerase reverse transcriptase)
G1063S (p.Gly1063Ser) 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; Dyskeratosis congenita, autosomal dominant 2; Idiopathic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
G1063S (p.Gly1063Ser) variant details
- p.Gly1063Ser
- rs938938578
- ClinGen CA112923449
- ClinVar RCV002508262
- ClinVar RCV002509553
- Pathogenic/Likely pathogenic
- Dyskeratosis congenita; Dyskeratosis congenita, autosomal dominant 2; Idiopathic
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.62
- MetaLR 0.92
- MetaSVM 0.85
- CADD 22.70
- PolyPhen-2 0.80
- SIFT 0.04
- ClinVar: Pathogenic/Likely pathogenic (Dyskeratosis congenita; Dyskeratosis congenita, autosomal domina)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)