V48I (p.Val48Ile) variant of MTOR (P42345)
V48I (p.Val48Ile) in MTOR (P42345) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
V48I (p.Val48Ile) variant details
- p.Val48Ile
- Ensembl rs1650807519
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.10
- CADD 22.10
- PolyPhen-2 0.02
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available