I58F (p.Ile58Phe) variant of GRIN1 (Q05586)
I58F (p.Ile58Phe) 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.
I58F (p.Ile58Phe) variant details
- p.Ile58Phe
- rs1377456941
- gnomAD 9-137139658-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.19
- CADD 21.00
- Population evidence available
- Structural context available
- Literature evidence available