N614S (p.Asn614Ser) variant of GRIN2A (Q12879)
N614S (p.Asn614Ser) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of GRIN2A-related complex neurodevelopmental disorder; Inborn genetic diseases; Lan. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
N614S (p.Asn614Ser) variant details
- p.Asn614Ser
- rs869312916
- ClinGen CA358154
- ClinVar RCV000210655
- ClinVar RCV001330044
- Pathogenic/Likely pathogenic
- GRIN2A-related complex neurodevelopmental disorder; Inborn genetic diseases; Lan
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- AlphaMissense 0.80
- MetaLR 0.24
- MetaSVM -0.72
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.25
- ClinVar: Pathogenic/Likely pathogenic (GRIN2A-related complex neurodevelopmental disorder; Inborn genet)
- EBI: Pathogenic (in FESD)
- UniProt: Pathogenic (in FESD)
- Structural context available
- Cited in: GRIN2A-related disorders: genotype and functional consequence predict phenotype. (PMID 30544257)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)