A14T (p.Ala14Thr) variant of GRIN2D (O15399)
A14T (p.Ala14Thr) 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.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- gnomAD 19-48398432-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.28
- CADD 25.10
- PolyPhen-2 0.69
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available