V647A (p.Val647Ala) variant of GRIA2 (Glutamate receptor 2)
V647A (p.Val647Ala) in GRIA2 (Glutamate receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Neurodevelopmental disorder with language impairment and behavioral abnormalitie. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
V647A (p.Val647Ala) variant details
- p.Val647Ala
- rs1579377586
- ClinGen CA358648949
- ClinVar RCV003226599
- Ensembl rs1579377586
- Pathogenic
- Neurodevelopmental disorder with language impairment and behavioral abnormalitie
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- AlphaMissense 0.99
- MetaLR 0.36
- MetaSVM -0.26
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.46
- ClinVar: Pathogenic (Neurodevelopmental disorder with language impairment and behavio)
- EBI: Pathogenic (in NEDLIB)
- UniProt: Pathogenic (in NEDLIB)
- Structural context available
- Cited in: GRIA2-Related Neurodevelopmental Disorder. (PMID 38224558)