A60V (p.Ala60Val) variant of GRIN2A (Q12879)
A60V (p.Ala60Val) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A60V (p.Ala60Val) variant details
- p.Ala60Val
- rs758117698
- ClinGen CA7897031
- NCI-TCGA Cosmic COSV5803
- cosmic curated COSV58032
- Likely benign
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.23
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Likely benign (Landau-Kleffner syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)