C7R (p.Cys7Arg) variant of TERT (Telomerase reverse transcriptase)
C7R (p.Cys7Arg) in TERT (Telomerase reverse transcriptase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
C7R (p.Cys7Arg) variant details
- p.Cys7Arg
- Ensembl rs2126693050
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.43
- MetaLR 0.81
- MetaSVM 0.65
- CADD 23.40
- PolyPhen-2 0.07
- SIFT 0.00
- Population evidence available
- Structural context available