L40M (p.Leu40Met) variant of GRIN2A (Q12879)
L40M (p.Leu40Met) in GRIN2A (Q12879) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
L40M (p.Leu40Met) variant details
- p.Leu40Met
- ExAC rs768360948
- gnomAD rs768360948
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.52
- CADD 23.20
- PolyPhen-2 0.94
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available