R620H (p.Arg620His) variant of GRIA2 (Glutamate receptor 2)
R620H (p.Arg620His) in GRIA2 (Glutamate receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R620H (p.Arg620His) variant details
- p.Arg620His
- rs2530775606
- ClinGen CA358648769
- ClinVar RCV003226598
- NCI-TCGA Cosmic COSV5239
- Likely pathogenic
- Neurodevelopmental disorder with language impairment and behavioral abnormalitie
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.81
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Neurodevelopmental disorder with language impairment and behavio)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: GRIA2-Related Neurodevelopmental Disorder. (PMID 38224558)