A9T (p.Ala9Thr) variant of TERT (Telomerase reverse transcriptase)
A9T (p.Ala9Thr) in TERT (Telomerase reverse transcriptase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A9T (p.Ala9Thr) variant details
- p.Ala9Thr
- Ensembl rs2126692971
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.29
- MetaLR 0.58
- MetaSVM -0.36
- CADD 18.30
- PolyPhen-2 0.24
- SIFT 0.02
- Population evidence available
- Structural context available