R53L (p.Arg53Leu) variant of MTOR (P42345)
R53L (p.Arg53Leu) in MTOR (P42345) 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 0.71 / 1. The record also includes population frequency data and structural context.
R53L (p.Arg53Leu) variant details
- p.Arg53Leu
- Ensembl rs1650804526
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.65
- CADD 28.20
- PolyPhen-2 0.80
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available