R5C (p.Arg5Cys) variant of GRIN1 (Q05586)
R5C (p.Arg5Cys) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R5C (p.Arg5Cys) variant details
- p.Arg5Cys
- rs755880462
- gnomAD 9-137139499-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.18
- CADD 24.60
- PolyPhen-2 0.55
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available