S617C (p.Ser617Cys) variant of GRIN1 (Q05586)
S617C (p.Ser617Cys) in GRIN1 (Q05586) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.47 / 1. The record also includes published literature and structural context.
S617C (p.Ser617Cys) variant details
- p.Ser617Cys
- rs2131298649
- ClinGen CA375719910
- ClinVar RCV003327919
- ClinVar RCV003643062
- Conflicting interpretations
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- AlphaMissense 1.00
- MetaLR 0.17
- MetaSVM -0.80
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Conflicting classifications of pathogenicity (Neurodevelopmental disorder with or without hyperkinetic movemen)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: GRIN1-Related Neurodevelopmental Disorder. (PMID 31219694)