V28M (p.Val28Met) variant of TERT (Telomerase reverse transcriptase)
V28M (p.Val28Met) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
V28M (p.Val28Met) variant details
- p.Val28Met
- TOPMed rs1060503000
- Uncertain significance
- Dyskeratosis congenita
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.29
- MetaLR 0.72
- MetaSVM 0.51
- CADD 22.90
- PolyPhen-2 0.54
- SIFT 0.13
- ClinVar: Uncertain significance (Dyskeratosis congenita)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available