R30P (p.Arg30Pro) variant of TERT (Telomerase reverse transcriptase)
R30P (p.Arg30Pro) in TERT (Telomerase reverse transcriptase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
R30P (p.Arg30Pro) variant details
- p.Arg30Pro
- Ensembl rs2126692273
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.75
- MetaLR 0.80
- MetaSVM 0.70
- CADD 26.40
- PolyPhen-2 0.93
- SIFT 0.00
- Population evidence available
- Structural context available