G5V (p.Gly5Val) variant of GRIN2D (O15399)
G5V (p.Gly5Val) in GRIN2D (O15399) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
G5V (p.Gly5Val) variant details
- p.Gly5Val
- TOPMed rs1970668308
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 24.90
- PolyPhen-2 0.93
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.00043)
- Structural context available