P508Q (p.Pro508Gln) variant of GRIA1 (Glutamate receptor 1)
P508Q (p.Pro508Gln) in GRIA1 (Glutamate receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Intellectual developmental disorder, autosomal dominant 67. The record also includes structural context.
P508Q (p.Pro508Gln) variant details
- p.Pro508Gln
- rs2149520942
- ClinGen CA361908013
- ClinVar RCV004738558
- Ensembl rs2149520942
- Likely pathogenic
- Intellectual developmental disorder, autosomal dominant 67
- Missense
- ClinVar: Likely pathogenic (Intellectual developmental disorder, autosomal dominant 67)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available