S24R (p.Ser24Arg) variant of GRIN2A (Q12879)
S24R (p.Ser24Arg) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S24R (p.Ser24Arg) variant details
- p.Ser24Arg
- rs781722466
- ClinGen CA394715784
- ClinVar RCV002009886
- ExAC rs781722466
- Uncertain significance
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.01
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (Landau-Kleffner syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)