P1462L (p.Pro1462Leu) variant of GRIN2B (Q13224)
P1462L (p.Pro1462Leu) in GRIN2B (Q13224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
P1462L (p.Pro1462Leu) variant details
- p.Pro1462Leu
- rs1948564811
- gnomAD 12-13562853-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- MetaLR 0.10
- MetaSVM -1.08
- CADD 27.30
- PolyPhen-2 0.93
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available