A12T (p.Ala12Thr) variant of MTOR (P42345)
A12T (p.Ala12Thr) in MTOR (P42345) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A12T (p.Ala12Thr) variant details
- p.Ala12Thr
- rs527289325
- ClinGen CA591041
- NCI-TCGA Cosmic COSV6388
- ClinVar RCV001203103
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.01
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Structural context available