K530M (p.Lys530Met) variant of GRIA2 (Glutamate receptor 2)
K530M (p.Lys530Met) 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 0.40 / 1. The record also includes published literature and structural context.
K530M (p.Lys530Met) variant details
- p.Lys530Met
- rs2126940142
- ClinGen CA358648132
- ClinVar RCV002226627
- Ensembl rs2126940142
- Likely pathogenic
- Neurodevelopmental disorder with language impairment and behavioral abnormalitie
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- AlphaMissense 0.99
- MetaLR 0.14
- MetaSVM -0.86
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.59
- ClinVar: Likely pathogenic (Neurodevelopmental disorder with language impairment and behavio)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: GRIA2-Related Neurodevelopmental Disorder. (PMID 38224558)