R1568G (p.Arg1568Gly) variant of MTOR (P42345)
R1568G (p.Arg1568Gly) in MTOR (P42345) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
R1568G (p.Arg1568Gly) variant details
- p.Arg1568Gly
- Ensembl rs2100510367
- Likely pathogenic
- Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.81
- MetaLR 0.68
- MetaSVM 0.53
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Macrocephaly-intellectual disability-neurodevelopmental disorder)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available