H70Q (p.His70Gln) variant of MTOR (P42345)
H70Q (p.His70Gln) in MTOR (P42345) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
H70Q (p.His70Gln) variant details
- p.His70Gln
- gnomAD rs1285222493
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.19
- CADD 21.70
- PolyPhen-2 0.01
- SIFT 0.32
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available