R49H (p.Arg49His) variant of GRIN2A (Q12879)
R49H (p.Arg49His) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Complex neurodevelopmental disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
R49H (p.Arg49His) variant details
- p.Arg49His
- rs774442834
- ClinGen CA7897040
- cosmic curated COSV10041
- ClinVar RCV001795585
- Uncertain significance
- Complex neurodevelopmental disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.57
- CADD 24.80
- PolyPhen-2 0.98
- SIFT 0.12
- ClinVar: Uncertain significance (Complex neurodevelopmental disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available