R43H (p.Arg43His) variant of GRIN1 (Q05586)
R43H (p.Arg43His) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R43H (p.Arg43His) variant details
- p.Arg43His
- gnomAD 9-137139614-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.38
- CADD 23.60
- PolyPhen-2 0.60
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available