R19C (p.Arg19Cys) variant of GRIN2A (Q12879)
R19C (p.Arg19Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R19C (p.Arg19Cys) variant details
- p.Arg19Cys
- rs768469157
- ClinGen CA7897059
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10040
- Uncertain significance
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.11
- CADD 21.40
- PolyPhen-2 0.18
- SIFT 0.11
- ClinVar: Uncertain significance (Landau-Kleffner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)