V17E (p.Val17Glu) variant of GRIA1 (Glutamate receptor 1)
V17E (p.Val17Glu) in GRIA1 (Glutamate receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
V17E (p.Val17Glu) variant details
- p.Val17Glu
- rs1561581220
- gnomAD 5-153492308-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- CADD 22.40
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available