R11C (p.Arg11Cys) variant of TERT (Telomerase reverse transcriptase)
R11C (p.Arg11Cys) in TERT (Telomerase reverse transcriptase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
R11C (p.Arg11Cys) variant details
- p.Arg11Cys
- cosmic curated COSV10737
- Ensembl rs2126692899
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.74
- MetaLR 0.86
- MetaSVM 0.88
- CADD 26.10
- PolyPhen-2 0.97
- SIFT 0.01
- Population evidence available
- Structural context available