R103* (p.Arg103Ter) variant of MTOR (P42345)
R103* (p.Arg103Ter) in MTOR (P42345) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
R103* (p.Arg103Ter) variant details
- p.Arg103Ter
- rs768374086
- ClinGen CA590962
- ClinVar RCV003840403
- ExAC rs768374086
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.662
- CADD 36.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available