P64R (p.Pro64Arg) variant of GRIN2A (Q12879)
P64R (p.Pro64Arg) 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 0.53 / 1. The record also includes published literature and structural context.
P64R (p.Pro64Arg) variant details
- p.Pro64Arg
- rs2142390004
- ClinGen CA394715546
- ClinVar RCV003741531
- Uncertain significance
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- AlphaMissense 0.16
- MetaLR 0.68
- MetaSVM 0.40
- PolyPhen-2 0.54
- SIFT 0.01
- EVE 0.16
- ClinVar: Uncertain significance (Landau-Kleffner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)