R19P (p.Arg19Pro) variant of GRIN2A (Q12879)
R19P (p.Arg19Pro) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Landau-Kleffner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
R19P (p.Arg19Pro) variant details
- p.Arg19Pro
- rs1302734897
- ClinGen CA394715812
- ClinVar RCV003581982
- Uncertain significance
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- AlphaMissense 0.13
- MetaLR 0.02
- MetaSVM -0.95
- PolyPhen-2 0.95
- SIFT 0.40
- MutPred 0.57
- ClinVar: Uncertain significance (Landau-Kleffner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)