Q1443P (p.Gln1443Pro) variant of GRIN2B (Q13224)
Q1443P (p.Gln1443Pro) 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.
Q1443P (p.Gln1443Pro) variant details
- p.Gln1443Pro
- rs1431504653
- gnomAD 12-13562910-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- MetaLR 0.01
- MetaSVM -0.91
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Literature evidence available