R32W (p.Arg32Trp) variant of MTOR (P42345)
R32W (p.Arg32Trp) 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 0.57 / 1. The record also includes population frequency data and structural context.
R32W (p.Arg32Trp) variant details
- p.Arg32Trp
- rs1446194159
- ClinGen CA338405307
- ClinVar RCV002796388
- TOPMed rs1446194159
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.46
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available