G1467A (p.Gly1467Ala) variant of GRIN2B (Q13224)
G1467A (p.Gly1467Ala) in GRIN2B (Q13224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
G1467A (p.Gly1467Ala) variant details
- p.Gly1467Ala
- rs200127692
- gnomAD 12-13562838-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- MetaLR 0.03
- MetaSVM -1.07
- CADD 20.70
- PolyPhen-2 0.05
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available