G5R (p.Gly5Arg) variant of MTOR (P42345)
G5R (p.Gly5Arg) in MTOR (P42345) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of MTOR-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G5R (p.Gly5Arg) variant details
- p.Gly5Arg
- rs774041749
- ClinGen CA591049
- ClinVar RCV002247218
- ExAC rs774041749
- Uncertain significance
- MTOR-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.09
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (MTOR-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 4.2e-05)
- Structural context available