A27V (p.Ala27Val) variant of GRIN2A (Q12879)
A27V (p.Ala27Val) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Landau-Kleffner syndrome; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- rs367543129
- ClinGen CA225867
- ClinVar RCV000084749
- ClinVar RCV003993801
- Uncertain significance
- Landau-Kleffner syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.08
- CADD 22.80
- PolyPhen-2 0.10
- SIFT 0.06
- ClinVar: Uncertain significance (Landau-Kleffner syndrome; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)