R19V (p.Arg19Val) variant of GRIN1 (Q05586)
R19V (p.Arg19Val) in GRIN1 (Q05586) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R19V (p.Arg19Val) variant details
- p.Arg19Val
- gnomAD 9-137139538-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.625
- CADD 24.80
- Population evidence available
- Structural context available
- Literature evidence available