Q45R (p.Gln45Arg) variant of MTOR (P42345)
Q45R (p.Gln45Arg) in MTOR (P42345) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
Q45R (p.Gln45Arg) variant details
- p.Gln45Arg
- rs2523475026
- ClinGen CA338405183
- ClinVar RCV003542914
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.37
- CADD 22.30
- PolyPhen-2 0.23
- SIFT 0.56
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available