A46G (p.Ala46Gly) variant of TERT (Telomerase reverse transcriptase)
A46G (p.Ala46Gly) in TERT (Telomerase reverse transcriptase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A46G (p.Ala46Gly) variant details
- p.Ala46Gly
- Ensembl rs2126691787
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.12
- MetaLR 0.67
- MetaSVM -0.26
- CADD 18.00
- PolyPhen-2 0.01
- SIFT 0.14
- Population evidence available
- Structural context available