R5S (p.Arg5Ser) variant of GRIN1 (Q05586)
R5S (p.Arg5Ser) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R5S (p.Arg5Ser) variant details
- p.Arg5Ser
- rs755880462
- gnomAD 9-137139499-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.07
- CADD 22.50
- PolyPhen-2 0.07
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available