I36V (p.Ile36Val) variant of GRIN2A (Q12879)
I36V (p.Ile36Val) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
I36V (p.Ile36Val) variant details
- p.Ile36Val
- rs2544032503
- ClinGen CA394715721
- ClinVar RCV003742341
- Uncertain significance
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.36
- CADD 18.10
- PolyPhen-2 0.05
- SIFT 1.00
- ClinVar: Uncertain significance (Landau-Kleffner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)