G12V (p.Gly12Val) variant of GRIN2D (O15399)
G12V (p.Gly12Val) 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 and structural context.
G12V (p.Gly12Val) variant details
- p.Gly12Val
- Ensembl rs1970668701
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available