A1437P (p.Ala1437Pro) variant of GRIN2B (Q13224)
A1437P (p.Ala1437Pro) in GRIN2B (Q13224) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and published literature.
A1437P (p.Ala1437Pro) variant details
- p.Ala1437Pro
- rs1948567505
- gnomAD 12-13562928-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.813
- CADD 32.00
- Population evidence available
- Literature evidence available