R5L (p.Arg5Leu) variant of GRIN1 (Q05586)
R5L (p.Arg5Leu) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
R5L (p.Arg5Leu) variant details
- p.Arg5Leu
- gnomAD 9-137139500-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.12
- CADD 22.50
- PolyPhen-2 0.18
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available