H39D (p.His39Asp) variant of GRIA1 (Glutamate receptor 1)
H39D (p.His39Asp) in GRIA1 (Glutamate receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
H39D (p.His39Asp) variant details
- p.His39Asp
- ExAC rs749875254
- TOPMed rs749875254
- gnomAD rs749875254
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.46
- MetaLR 0.50
- MetaSVM -0.01
- CADD 23.40
- PolyPhen-2 0.58
- SIFT 0.21
- Most common in the HGDP:YORUBA population (allele frequency 0.026)
- Structural context available