T14S (p.Thr14Ser) variant of MTOR (P42345)
T14S (p.Thr14Ser) 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 0.20 / 1. The record also includes population frequency data and structural context.
T14S (p.Thr14Ser) variant details
- p.Thr14Ser
- ExAC rs752849789
- TOPMed rs752849789
- gnomAD rs752849789
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.10
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 0.50
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available