T26A (p.Thr26Ala) variant of TERT (Telomerase reverse transcriptase)
T26A (p.Thr26Ala) 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; Dyskeratosis congenita, autosomal dominant 2; Idiopathic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
T26A (p.Thr26Ala) variant details
- p.Thr26Ala
- rs1579599309
- ClinGen CA359059504
- ClinVar RCV002537121
- ClinVar RCV003141795
- Conflicting interpretations
- Dyskeratosis congenita; Dyskeratosis congenita, autosomal dominant 2; Idiopathic
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.12
- MetaLR 0.66
- MetaSVM -0.26
- CADD 10.50
- PolyPhen-2 0.00
- SIFT 0.36
- ClinVar: Conflicting classifications of pathogenicity (Dyskeratosis congenita; Dyskeratosis congenita, autosomal domina)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)