A1417G (p.Ala1417Gly) variant of GRIN2B (Q13224)
A1417G (p.Ala1417Gly) 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.
A1417G (p.Ala1417Gly) variant details
- p.Ala1417Gly
- rs377105285
- gnomAD 12-13562988-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- MetaLR 0.01
- MetaSVM -1.00
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.43
- Population evidence available
- Literature evidence available