F28L (p.Phe28Leu) variant of GRIN2D (O15399)
F28L (p.Phe28Leu) in GRIN2D (O15399) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
F28L (p.Phe28Leu) variant details
- p.Phe28Leu
- TOPMed rs1970669308
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.84
- CADD 23.60
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available