R8A (p.Arg8Ala) variant of GRIN2D (O15399)
R8A (p.Arg8Ala) in GRIN2D (O15399) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R8A (p.Arg8Ala) variant details
- p.Arg8Ala
- gnomAD 19-48398409-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.595
- CADD 25.80
- Most common in the Non-Finnish European population (allele frequency 5.9e-06)
- Structural context available
- Literature evidence available