E35K (p.Glu35Lys) variant of MTOR (P42345)
E35K (p.Glu35Lys) in MTOR (P42345) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
E35K (p.Glu35Lys) variant details
- p.Glu35Lys
- Ensembl rs2100986267
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.20
- CADD 24.10
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available