E31K (p.Glu31Lys) variant of GRIN2D (O15399)
E31K (p.Glu31Lys) in GRIN2D (O15399) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E31K (p.Glu31Lys) variant details
- p.Glu31Lys
- gnomAD 19-48398483-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.13
- ESM-1b 0.03
- AlphaMissense 0.21
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available