A9T (p.Ala9Thr) variant of MTOR (P42345)
A9T (p.Ala9Thr) in MTOR (P42345) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A9T (p.Ala9Thr) variant details
- p.Ala9Thr
- rs769877976
- ClinGen CA591045
- NCI-TCGA Cosmic COSV6387
- ClinVar RCV002115559
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.15
- CADD 24.70
- PolyPhen-2 0.83
- SIFT 0.01
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available