Q40K (p.Gln40Lys) variant of GRIN1 (Q05586)
Q40K (p.Gln40Lys) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
Q40K (p.Gln40Lys) variant details
- p.Gln40Lys
- gnomAD 9-137139604-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.15
- CADD 21.50
- PolyPhen-2 0.56
- SIFT 0.50
- Population evidence available
- Structural context available
- Literature evidence available