V1430A (p.Val1430Ala) variant of GRIN2B (Q13224)
V1430A (p.Val1430Ala) in GRIN2B (Q13224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and published literature.
V1430A (p.Val1430Ala) variant details
- p.Val1430Ala
- rs780022796
- gnomAD 12-13562949-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- MetaLR 0.01
- MetaSVM -1.00
- CADD 22.00
- PolyPhen-2 0.02
- SIFT 0.28
- Population evidence available
- Literature evidence available