V46M (p.Val46Met) variant of GRIN2A (Q12879)
V46M (p.Val46Met) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Landau-Kleffner syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V46M (p.Val46Met) variant details
- p.Val46Met
- rs796052542
- ClinGen CA314931
- NCI-TCGA Cosmic COSV5802
- cosmic curated COSV58028
- Conflicting interpretations
- Landau-Kleffner syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.18
- CADD 22.10
- PolyPhen-2 0.11
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Landau-Kleffner syndrome; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00039)
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)