A14S (p.Ala14Ser) variant of GRIN2D (O15399)
A14S (p.Ala14Ser) 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.
A14S (p.Ala14Ser) variant details
- p.Ala14Ser
- gnomAD 19-48398432-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 24.60
- PolyPhen-2 0.72
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available