L1477V (p.Leu1477Val) variant of GRIN2B (Q13224)
L1477V (p.Leu1477Val) in GRIN2B (Q13224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and published literature.
L1477V (p.Leu1477Val) variant details
- p.Leu1477Val
- rs1388986519
- gnomAD 12-13562809-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- MetaLR 0.08
- MetaSVM -1.13
- CADD 25.00
- PolyPhen-2 0.72
- SIFT 0.00
- Population evidence available
- Literature evidence available