M50T (p.Met50Thr) variant of MTOR (P42345)
M50T (p.Met50Thr) in MTOR (P42345) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
M50T (p.Met50Thr) variant details
- p.Met50Thr
- TOPMed rs1650806357
- gnomAD rs1650806357
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.11
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available