R15L (p.Arg15Leu) variant of TERT (Telomerase reverse transcriptase)
R15L (p.Arg15Leu) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
R15L (p.Arg15Leu) variant details
- p.Arg15Leu
- Ensembl rs2126692755
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.73
- MetaLR 0.83
- MetaSVM 0.80
- CADD 24.90
- PolyPhen-2 0.73
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.7e-05)
- Structural context available