P79R (p.Pro79Arg) variant of GRIN2A (Q12879)
P79R (p.Pro79Arg) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Landau-Kleffner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
P79R (p.Pro79Arg) variant details
- p.Pro79Arg
- rs1250662891
- ClinGen CA394715452
- ClinVar RCV000656053
- ClinVar RCV001782995
- Likely pathogenic
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.88
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Landau-Kleffner syndrome)
- EBI: Pathogenic (in FESD)
- UniProt: Pathogenic (in FESD)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. (PMID 23933819)
- Cited in: Altered zinc sensitivity of NMDA receptors harboring clinically-relevant mutations. (PMID 27288002)