E58K (p.Glu58Lys) variant of MTOR (P42345)
E58K (p.Glu58Lys) in MTOR (P42345) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
E58K (p.Glu58Lys) variant details
- p.Glu58Lys
- TOPMed rs1212557139
- gnomAD rs1212557139
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.40
- CADD 24.80
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available