S549R (p.Ser549Arg) variant of GRIN1 (Q05586)
S549R (p.Ser549Arg) in GRIN1 (Q05586) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Neurodevelopmental disorder with or without hyperkinetic movements and seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
S549R (p.Ser549Arg) variant details
- p.Ser549Arg
- rs1554770046
- ClinGen CA375717591
- ClinVar RCV000624738
- ClinVar RCV003152721
- Pathogenic/Likely pathogenic
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- AlphaMissense 0.99
- MetaLR 0.48
- MetaSVM -0.08
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.46
- ClinVar: Pathogenic/Likely pathogenic (Neurodevelopmental disorder with or without hyperkinetic movemen)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)