E38D (p.Glu38Asp) variant of GRIA1 (Glutamate receptor 1)
E38D (p.Glu38Asp) in GRIA1 (Glutamate receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E38D (p.Glu38Asp) variant details
- p.Glu38Asp
- ESP rs369571702
- ExAC rs369571702
- TOPMed rs369571702
- gnomAD rs369571702
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.26
- MetaLR 0.13
- MetaSVM -0.97
- CADD 25.00
- PolyPhen-2 0.84
- SIFT 0.15
- Most common in the HGDP:RUSSIAN population (allele frequency 0.02)
- Structural context available