Q40H (p.Gln40His) variant of GRIN1 (Q05586)
Q40H (p.Gln40His) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Q40H (p.Gln40His) variant details
- p.Gln40His
- rs764709864
- gnomAD 9-137139606-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.17
- CADD 24.00
- PolyPhen-2 0.87
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available