S2R (p.Ser2Arg) variant of GRIN1 (Q05586)
S2R (p.Ser2Arg) 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.
S2R (p.Ser2Arg) variant details
- p.Ser2Arg
- rs745492450
- gnomAD 9-137139490-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.05
- CADD 23.80
- PolyPhen-2 0.02
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available