S1478P (p.Ser1478Pro) variant of GRIN2B (Q13224)
S1478P (p.Ser1478Pro) in GRIN2B (Q13224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
S1478P (p.Ser1478Pro) variant details
- p.Ser1478Pro
- rs910793751
- gnomAD 12-13562806-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- MetaLR 0.02
- MetaSVM -1.08
- CADD 21.80
- PolyPhen-2 0.05
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available