E97K (p.Glu97Lys) variant of MTOR (P42345)
E97K (p.Glu97Lys) 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 0.55 / 1. The record also includes population frequency data and structural context.
E97K (p.Glu97Lys) variant details
- p.Glu97Lys
- rs1650502695
- ClinGen CA338404318
- ClinVar RCV001757009
- Ensembl rs1650502695
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.41
- CADD 23.50
- PolyPhen-2 0.04
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available