A4V (p.Ala4Val) variant of GRIN2D (O15399)
A4V (p.Ala4Val) in GRIN2D (O15399) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- gnomAD 19-48398403-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.03
- ESM-1b 0.12
- AlphaMissense 0.19
- CADD 22.70
- PolyPhen-2 0.06
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available