L22M (p.Leu22Met) variant of TERT (Telomerase reverse transcriptase)
L22M (p.Leu22Met) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
L22M (p.Leu22Met) variant details
- p.Leu22Met
- Ensembl rs2126692539
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.23
- MetaLR 0.78
- MetaSVM 0.06
- CADD 23.80
- PolyPhen-2 0.68
- SIFT 0.06
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available