S2I (p.Ser2Ile) variant of GRIN1 (Q05586)
S2I (p.Ser2Ile) 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.
S2I (p.Ser2Ile) variant details
- p.Ser2Ile
- gnomAD 9-137139491-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.08
- CADD 24.40
- PolyPhen-2 0.04
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available