L82V (p.Leu82Val) variant of GRIN1 (Q05586)
L82V (p.Leu82Val) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L82V (p.Leu82Val) variant details
- p.Leu82Val
- gnomAD 9-137139730-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.19
- CADD 23.90
- PolyPhen-2 0.18
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available