E50G (p.Glu50Gly) variant of GRIN2A (Q12879)
E50G (p.Glu50Gly) in GRIN2A (Q12879) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
E50G (p.Glu50Gly) variant details
- p.Glu50Gly
- gnomAD rs1171000379
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.28
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available