M50V (p.Met50Val) variant of MTOR (P42345)
M50V (p.Met50Val) in MTOR (P42345) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
M50V (p.Met50Val) variant details
- p.Met50Val
- gnomAD rs1165696382
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.07
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available