M16V (p.Met16Val) variant of GRIN2D (O15399)
M16V (p.Met16Val) in GRIN2D (O15399) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
M16V (p.Met16Val) variant details
- p.Met16Val
- gnomAD 19-48398438-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.40
- CADD 23.40
- PolyPhen-2 0.27
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available