R29Q (p.Arg29Gln) variant of TERT (Telomerase reverse transcriptase)
R29Q (p.Arg29Gln) in TERT (Telomerase reverse transcriptase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R29Q (p.Arg29Gln) variant details
- p.Arg29Gln
- Ensembl rs2126692318
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.27
- MetaLR 0.65
- MetaSVM -0.47
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.29
- Population evidence available
- Structural context available