L54V (p.Leu54Val) variant of GRIN2A (Q12879)
L54V (p.Leu54Val) in GRIN2A (Q12879) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
L54V (p.Leu54Val) variant details
- p.Leu54Val
- ESP rs370793598
- ExAC rs370793598
- gnomAD rs370793598
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.60
- CADD 22.70
- PolyPhen-2 0.92
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available