L30F (p.Leu30Phe) variant of GRIA1 (Glutamate receptor 1)
L30F (p.Leu30Phe) in GRIA1 (Glutamate receptor 1) is a protein-truncating 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.
L30F (p.Leu30Phe) variant details
- p.Leu30Phe
- gnomAD 5-153492267-CTTGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.529
- CADD 25.80
- Population evidence available
- Structural context available
- Literature evidence available