I94T (p.Ile94Thr) variant of MTOR (P42345)
I94T (p.Ile94Thr) in MTOR (P42345) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
I94T (p.Ile94Thr) variant details
- p.Ile94Thr
- gnomAD rs1340363261
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.76
- CADD 28.20
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available