L1434F (p.Leu1434Phe) variant of GRIN2B (Q13224)
L1434F (p.Leu1434Phe) in GRIN2B (Q13224) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and published literature.
L1434F (p.Leu1434Phe) variant details
- p.Leu1434Phe
- gnomAD 12-13562937-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.681
- CADD 33.00
- Population evidence available
- Literature evidence available