F47L (p.Phe47Leu) variant of TERT (Telomerase reverse transcriptase)
F47L (p.Phe47Leu) in TERT (Telomerase reverse transcriptase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
F47L (p.Phe47Leu) variant details
- p.Phe47Leu
- Ensembl rs2126691769
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.45
- MetaLR 0.57
- MetaSVM -0.04
- CADD 22.90
- PolyPhen-2 0.22
- SIFT 0.00
- Population evidence available
- Structural context available