L30* (p.Leu30Ter) variant of GRIA1 (Glutamate receptor 1)
L30* (p.Leu30Ter) in GRIA1 (Glutamate receptor 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
L30* (p.Leu30Ter) variant details
- p.Leu30Ter
- gnomAD 5-153493934-T-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.702
- CADD 36.00
- Most common in the HGDP:MBUTI population (allele frequency 0.29)
- Structural context available
- Literature evidence available