R53Q (p.Arg53Gln) variant of MTOR (P42345)
R53Q (p.Arg53Gln) 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 0.46 / 1. The record also includes population frequency data and structural context.
R53Q (p.Arg53Gln) variant details
- p.Arg53Gln
- rs1650804526
- ClinGen CA338405085
- NCI-TCGA Cosmic COSV6387
- ClinVar RCV001770586
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.26
- CADD 23.10
- PolyPhen-2 0.12
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available