C24* (p.Cys24Ter) variant of GRIN2D (O15399)
C24* (p.Cys24Ter) in GRIN2D (O15399) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
C24* (p.Cys24Ter) variant details
- p.Cys24Ter
- gnomAD 19-48398464-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.478
- CADD 33.00
- Most common in the Non-Finnish European population (allele frequency 2.5e-06)
- Structural context available
- Literature evidence available