T49I (p.Thr49Ile) variant of MTOR (P42345)
T49I (p.Thr49Ile) in MTOR (P42345) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
T49I (p.Thr49Ile) variant details
- p.Thr49Ile
- gnomAD rs1366469471
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.41
- CADD 23.00
- PolyPhen-2 0.19
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available