V28G (p.Val28Gly) variant of TERT (Telomerase reverse transcriptase)
V28G (p.Val28Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
V28G (p.Val28Gly) variant details
- p.Val28Gly
- rs1561215157
- ClinGen CA359059472
- ClinVar RCV002509512
- ClinVar RCV002544804
- Uncertain significance
- Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.56
- MetaLR 0.66
- MetaSVM 0.03
- CADD 20.00
- PolyPhen-2 0.27
- SIFT 0.00
- ClinVar: Uncertain significance (Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)