H39Y (p.His39Tyr) variant of GRIA1 (Glutamate receptor 1)
H39Y (p.His39Tyr) in GRIA1 (Glutamate receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
H39Y (p.His39Tyr) variant details
- p.His39Tyr
- ExAC rs749875254
- TOPMed rs749875254
- gnomAD rs749875254
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.26
- MetaLR 0.35
- MetaSVM -0.27
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available