P553L (p.Pro553Leu) variant of GRIN2B (Q13224)
P553L (p.Pro553Leu) in GRIN2B (Q13224) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Developmental and epileptic encephalopathy, 27; Intellectual disability, autosom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature.
P553L (p.Pro553Leu) variant details
- p.Pro553Leu
- rs397514556
- Likely pathogenic
- Developmental and epileptic encephalopathy, 27; Intellectual disability, autosom
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- AlphaMissense 1.00
- MetaLR 0.49
- MetaSVM 0.15
- PolyPhen-2 0.95
- EVE 0.91
- MutPred 0.69
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 27; Intellectual dis)
- UniProt: Likely pathogenic (in MRD6)
- Cited in: Diagnostic exome sequencing in persons with severe intellectual disability. (PMID 23033978)
- Cited in: Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue… (PMID 28095420)