L33V (p.Leu33Val) variant of GRIN1 (Q05586)
L33V (p.Leu33Val) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L33V (p.Leu33Val) variant details
- p.Leu33Val
- rs1278963684
- gnomAD 9-137139583-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.19
- CADD 24.00
- PolyPhen-2 0.95
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available