F1421L (p.Phe1421Leu) variant of GRIN2B (Q13224)
F1421L (p.Phe1421Leu) in GRIN2B (Q13224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and published literature.
F1421L (p.Phe1421Leu) variant details
- p.Phe1421Leu
- rs879254129
- gnomAD 12-13562977-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- MetaLR 0.02
- MetaSVM -1.07
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.06
- Population evidence available
- Literature evidence available