L30W (p.Leu30Trp) variant of GRIA1 (Glutamate receptor 1)
L30W (p.Leu30Trp) in GRIA1 (Glutamate receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L30W (p.Leu30Trp) variant details
- p.Leu30Trp
- rs1204803494
- gnomAD 5-153492269-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- CADD 27.20
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 0.00098)
- Structural context available
- Literature evidence available