P1439A (p.Pro1439Ala) variant of GRIN2B (Q13224)
P1439A (p.Pro1439Ala) in GRIN2B (Q13224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Landau-Kleffner syndrome; Intellectual disability, auto. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes published literature.
P1439A (p.Pro1439Ala) variant details
- p.Pro1439Ala
- rs758042475
- Uncertain significance
- Inborn genetic diseases; Landau-Kleffner syndrome; Intellectual disability, auto
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- AlphaMissense 0.08
- MetaLR 0.01
- MetaSVM -1.01
- PolyPhen-2 0.00
- MutPred 0.56
- ClinVar: Uncertain significance (Inborn genetic diseases; Landau-Kleffner syndrome; Intellectual)
- EBI: uncertain significance (found in a patient with Landau-Kleffner syndrome)
- UniProt: Uncertain significance (found in a patient with Landau-Kleffner syndrome)
- Cited in: Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative… (PMID 27864847)