V17A (p.Val17Ala) variant of GRIN2A (Q12879)
V17A (p.Val17Ala) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
V17A (p.Val17Ala) variant details
- p.Val17Ala
- rs2050242755
- ClinGen CA394715826
- ClinVar RCV001894481
- TOPMed rs2050242755
- Uncertain significance
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.04
- CADD 16.90
- PolyPhen-2 0.00
- 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 2.9e-05)
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)