R30H (p.Arg30His) variant of TERT (Telomerase reverse transcriptase)
R30H (p.Arg30His) in TERT (Telomerase reverse transcriptase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
R30H (p.Arg30His) variant details
- p.Arg30His
- Ensembl rs2126692273
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.62
- MetaLR 0.80
- MetaSVM 0.72
- CADD 25.90
- PolyPhen-2 0.91
- SIFT 0.00
- Population evidence available
- Structural context available