A9S (p.Ala9Ser) variant of TERT (Telomerase reverse transcriptase)
A9S (p.Ala9Ser) 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.
A9S (p.Ala9Ser) variant details
- p.Ala9Ser
- Ensembl rs2126692971
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.30
- MetaLR 0.65
- MetaSVM -0.19
- CADD 17.00
- PolyPhen-2 0.24
- SIFT 0.02
- Population evidence available
- Structural context available