R19H (p.Arg19His) variant of TERT (Telomerase reverse transcriptase)
R19H (p.Arg19His) in TERT (Telomerase reverse transcriptase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
R19H (p.Arg19His) variant details
- p.Arg19His
- Ensembl rs2126692628
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.47
- MetaLR 0.84
- MetaSVM 0.31
- CADD 24.80
- PolyPhen-2 0.87
- SIFT 0.01
- Population evidence available
- Structural context available