R19H (p.Arg19His) variant of GRIN2A (Q12879)
R19H (p.Arg19His) in GRIN2A (Q12879) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R19H (p.Arg19His) variant details
- p.Arg19His
- cosmic curated COSV10736
- TOPMed rs1302734897
- gnomAD rs1302734897
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.10
- AlphaMissense 0.13
- MetaLR 0.02
- MetaSVM -0.95
- CADD 20.60
- PolyPhen-2 0.95
- Most common in the East Asian population (allele frequency 0.00013)
- Structural context available