G35V (p.Gly35Val) variant of TERT (Telomerase reverse transcriptase)
G35V (p.Gly35Val) 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, autosomal dominant 2; Idiopathic Pulmonary Fibrosis. 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.
G35V (p.Gly35Val) variant details
- p.Gly35Val
- rs2126692114
- ClinGen CA359059325
- ClinVar RCV003802702
- Ensembl rs2126692114
- Uncertain significance
- Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.69
- MetaLR 0.94
- MetaSVM 0.98
- CADD 23.10
- PolyPhen-2 0.66
- SIFT 0.00
- ClinVar: Uncertain significance (Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmona)
- 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)