M123T (p.Met123Thr) variant of MTOR (P42345)
M123T (p.Met123Thr) in MTOR (P42345) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
M123T (p.Met123Thr) variant details
- p.Met123Thr
- TOPMed rs1303421552
- gnomAD rs1303421552
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.67
- CADD 24.60
- PolyPhen-2 0.97
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available