G56V (p.Gly56Val) variant of GRIN2A (Q12879)
G56V (p.Gly56Val) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Landau-Kleffner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G56V (p.Gly56Val) variant details
- p.Gly56Val
- rs769971551
- ClinGen CA7897036
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10041
- Likely benign
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.24
- CADD 22.20
- PolyPhen-2 0.06
- SIFT 0.07
- ClinVar: Likely benign (Landau-Kleffner syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)