T14A (p.Thr14Ala) variant of MTOR (P42345)
T14A (p.Thr14Ala) 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 0.09 / 1. The record also includes population frequency data and structural context.
T14A (p.Thr14Ala) variant details
- p.Thr14Ala
- rs200753449
- ClinGen CA591039
- ClinVar RCV002663608
- ExAC rs200753449
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0902
- REVEL 0.04
- CADD 7.62
- PolyPhen-2 0.00
- SIFT 0.58
- MutPred 0.49
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available