R53* (p.Arg53Ter) variant of MTOR (P42345)
R53* (p.Arg53Ter) in MTOR (P42345) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
R53* (p.Arg53Ter) variant details
- p.Arg53Ter
- rs754392569
- ClinGen CA338405088
- ClinVar RCV001236424
- ExAC rs754392569
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.614
- CADD 36.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available