E59K (p.Glu59Lys) variant of MTOR (P42345)
E59K (p.Glu59Lys) in MTOR (P42345) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
E59K (p.Glu59Lys) variant details
- p.Glu59Lys
- rs1650724507
- ClinGen CA338404961
- ClinVar RCV001064959
- Ensembl rs1650724507
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.25
- CADD 22.90
- PolyPhen-2 0.08
- SIFT 0.34
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available