R53G (p.Arg53Gly) variant of MTOR (P42345)
R53G (p.Arg53Gly) 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 0.53 / 1. The record also includes population frequency data and structural context.
R53G (p.Arg53Gly) variant details
- p.Arg53Gly
- ExAC rs754392569
- gnomAD rs754392569
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.52
- CADD 25.30
- PolyPhen-2 0.85
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available