H67Q (p.His67Gln) variant of GRIN1 (Q05586)
H67Q (p.His67Gln) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
H67Q (p.His67Gln) variant details
- p.His67Gln
- gnomAD 9-137139687-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.40
- CADD 21.90
- PolyPhen-2 0.86
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available