T26K (p.Thr26Lys) variant of TERT (Telomerase reverse transcriptase)
T26K (p.Thr26Lys) 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; Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
T26K (p.Thr26Lys) variant details
- p.Thr26Lys
- rs760727529
- ClinGen CA359059499
- ClinVar RCV002547514
- ExAC rs760727529
- Uncertain significance
- Dyskeratosis congenita; Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, a
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.34
- MetaLR 0.77
- MetaSVM 0.17
- CADD 17.90
- PolyPhen-2 0.03
- SIFT 0.07
- ClinVar: Uncertain significance (Dyskeratosis congenita; Idiopathic Pulmonary Fibrosis; Dyskerato)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)