P29R (p.Pro29Arg) variant of GRIN2D (O15399)
P29R (p.Pro29Arg) in GRIN2D (O15399) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
P29R (p.Pro29Arg) variant details
- p.Pro29Arg
- gnomAD 19-48398475-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.472
- CADD 26.30
- Population evidence available
- Structural context available
- Literature evidence available