A14P (p.Ala14Pro) variant of GRIN2D (O15399)
A14P (p.Ala14Pro) in GRIN2D (O15399) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A14P (p.Ala14Pro) variant details
- p.Ala14Pro
- gnomAD 19-48398432-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 25.60
- PolyPhen-2 0.90
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available