A7P (p.Ala7Pro) variant of MTOR (P42345)
A7P (p.Ala7Pro) in MTOR (P42345) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A7P (p.Ala7Pro) variant details
- p.Ala7Pro
- Ensembl rs2100986680
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.11
- CADD 21.50
- PolyPhen-2 0.07
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available