E38V (p.Glu38Val) variant of GRIA1 (Glutamate receptor 1)
E38V (p.Glu38Val) in GRIA1 (Glutamate receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
E38V (p.Glu38Val) variant details
- p.Glu38Val
- rs1224873266
- gnomAD 5-153492251-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- CADD 6.98
- SIFT 1.00
- Most common in the HGDP:KALASH population (allele frequency 0.024)
- Structural context available
- Literature evidence available