I4V (p.Ile4Val) variant of GRIA1 (Glutamate receptor 1)
I4V (p.Ile4Val) in GRIA1 (Glutamate receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
I4V (p.Ile4Val) variant details
- p.Ile4Val
- TOPMed rs1753850619
- gnomAD rs1753850619
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.13
- MetaLR 0.02
- MetaSVM -1.03
- CADD 21.90
- SIFT 0.97
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available