S547P (p.Ser547Pro) variant of GRIN2A (Q12879)
S547P (p.Ser547Pro) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Landau-Kleffner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
S547P (p.Ser547Pro) variant details
- p.Ser547Pro
- rs2141341943
- ClinGen CA394800196
- ClinVar RCV002833717
- Pathogenic
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- AlphaMissense 0.63
- MetaLR 0.13
- MetaSVM -0.99
- PolyPhen-2 0.87
- SIFT 0.20
- EVE 0.22
- ClinVar: Pathogenic (Landau-Kleffner syndrome)
- EBI: Pathogenic (in FESD)
- UniProt: Pathogenic (in FESD)
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)