R3C (p.Arg3Cys) variant of TERT (Telomerase reverse transcriptase)
R3C (p.Arg3Cys) in TERT (Telomerase reverse transcriptase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
R3C (p.Arg3Cys) variant details
- p.Arg3Cys
- TOPMed rs1166646936
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.68
- MetaLR 0.84
- MetaSVM 0.66
- CADD 27.30
- PolyPhen-2 0.91
- SIFT 0.00
- Population evidence available
- Structural context available