E34D (p.Glu34Asp) variant of MTOR (P42345)
E34D (p.Glu34Asp) 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 0.25 / 1. The record also includes population frequency data and structural context.
E34D (p.Glu34Asp) variant details
- p.Glu34Asp
- rs769367158
- ClinGen CA591028
- ClinVar RCV001919655
- ExAC rs769367158
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.23
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.33
- 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