P13R (p.Pro13Arg) variant of GRIN2A (Q12879)
P13R (p.Pro13Arg) 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 population frequency data, published literature, and structural context.
P13R (p.Pro13Arg) variant details
- p.Pro13Arg
- rs367543131
- ClinGen CA394715848
- ClinVar RCV001993807
- TOPMed rs367543131
- Uncertain significance
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.17
- CADD 20.20
- PolyPhen-2 0.03
- SIFT 0.37
- ClinVar: Uncertain significance (Landau-Kleffner syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)