A639S (p.Ala639Ser) variant of GRIA2 (Glutamate receptor 2)
A639S (p.Ala639Ser) in GRIA2 (Glutamate receptor 2) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of not provided; Neurodevelopmental disorder with language impairment and behaviora. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature.
A639S (p.Ala639Ser) variant details
- p.Ala639Ser
- rs1579377564
- Likely pathogenic
- not provided; Neurodevelopmental disorder with language impairment and behaviora
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- AlphaMissense 0.98
- MetaLR 0.66
- MetaSVM 0.44
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.72
- ClinVar: Likely pathogenic (Neurodevelopmental disorder with language impairment and behavio)
- UniProt: Likely pathogenic (in NEDLIB)
- Cited in: AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. (PMID 31300657)