E43G (p.Glu43Gly) variant of MTOR (P42345)
E43G (p.Glu43Gly) 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 0.42 / 1. The record also includes population frequency data and structural context.
E43G (p.Glu43Gly) variant details
- p.Glu43Gly
- rs939741247
- ClinGen CA17960660
- ClinVar RCV001230880
- TOPMed rs939741247
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.29
- CADD 25.40
- PolyPhen-2 0.03
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available