Q40H (p.Gln40His) variant of TERT (Telomerase reverse transcriptase)
Q40H (p.Gln40His) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
Q40H (p.Gln40His) variant details
- p.Gln40His
- rs1751294429
- Ensembl rs1751294429
- ClinGen CA359059207
- ClinVar RCV002553806
- Uncertain significance
- Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2; Dys
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.31
- MetaLR 0.69
- MetaSVM -0.08
- CADD 20.40
- PolyPhen-2 0.20
- SIFT 0.02
- ClinVar: Uncertain significance (Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal)
- 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)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)