H42R (p.His42Arg) variant of GRIN2A (Q12879)
H42R (p.His42Arg) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
H42R (p.His42Arg) variant details
- p.His42Arg
- rs2050238895
- ClinGen CA394715680
- ClinVar RCV001115422
- Ensembl rs2050238895
- Uncertain significance
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.20
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Uncertain significance (Landau-Kleffner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)