G9C (p.Gly9Cys) variant of GRIN2D (O15399)
G9C (p.Gly9Cys) in GRIN2D (O15399) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
G9C (p.Gly9Cys) variant details
- p.Gly9Cys
- gnomAD 19-48398417-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.10
- ESM-1b 0.37
- AlphaMissense 0.27
- CADD 28.30
- PolyPhen-2 0.82
- SIFT 0.01
- Most common in the South Asian population (allele frequency 5.2e-05)
- Structural context available
- Literature evidence available