H17Y (p.His17Tyr) variant of TERT (Telomerase reverse transcriptase)
H17Y (p.His17Tyr) 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 Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2; Dys. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
H17Y (p.His17Tyr) variant details
- p.His17Tyr
- rs1348895488
- ClinGen CA359059749
- ClinVar RCV003056958
- ClinVar RCV005752148
- Uncertain significance
- Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2; Dys
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.15
- MetaLR 0.42
- MetaSVM -0.45
- CADD 13.40
- PolyPhen-2 0.06
- SIFT 1.00
- ClinVar: Uncertain significance (Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)