V647L (p.Val647Leu) variant of GRIA2 (Glutamate receptor 2)
V647L (p.Val647Leu) in GRIA2 (Glutamate receptor 2) is a missense change. Clinical records from ClinVar 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 0.39 / 1. The record also includes published literature.
V647L (p.Val647Leu) variant details
- p.Val647Leu
- rs765072736
- Pathogenic
- Neurodevelopmental disorder with language impairment and behavioral abnormalitie
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- AlphaMissense 0.53
- MetaLR 0.27
- MetaSVM -0.56
- PolyPhen-2 1.00
- SIFT 0.06
- EVE 0.20
- ClinVar: Pathogenic (Neurodevelopmental disorder with language impairment and behavio)
- UniProt: Pathogenic (in NEDLIB)
- Cited in: AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. (PMID 31300657)