N693D (p.Asn693Asp) variant of GRIN2A (Q12879)
N693D (p.Asn693Asp) 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 0.46 / 1. The record also includes published literature and structural context.
N693D (p.Asn693Asp) variant details
- p.Asn693Asp
- rs2042303226
- ClinGen CA394797860
- ClinVar RCV001290247
- Ensembl rs2042303226
- Likely pathogenic
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- AlphaMissense 1.00
- MetaLR 0.26
- MetaSVM -0.65
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.57
- ClinVar: Likely pathogenic (Landau-Kleffner syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)