L20del (p.Leu20del) variant of GRIN2D (O15399)
L20del (p.Leu20del) in GRIN2D (O15399) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
L20del (p.Leu20del) variant details
- rs919633142
- gnomAD 19-48398438-ATGC-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.53
- CADD 21.20
- Most common in the Latino/Admixed American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available