S56R (p.Ser56Arg) variant of MTOR (P42345)
S56R (p.Ser56Arg) in MTOR (P42345) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
S56R (p.Ser56Arg) variant details
- p.Ser56Arg
- 1000Genomes rs563387441
- ExAC rs563387441
- gnomAD rs563387441
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.49
- CADD 23.60
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available