F7V (p.Phe7Val) variant of GRIA1 (Glutamate receptor 1)
F7V (p.Phe7Val) in GRIA1 (Glutamate receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
F7V (p.Phe7Val) variant details
- p.Phe7Val
- TOPMed rs1180322583
- gnomAD rs1180322583
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.05
- MetaLR 0.02
- MetaSVM -1.03
- CADD 19.60
- PolyPhen-2 0.01
- SIFT 0.75
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available