A4S (p.Ala4Ser) variant of GRIN2D (O15399)
A4S (p.Ala4Ser) 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.
A4S (p.Ala4Ser) variant details
- p.Ala4Ser
- gnomAD 19-48398402-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available