R11W (p.Arg11Trp) variant of GRIN2D (O15399)
R11W (p.Arg11Trp) in GRIN2D (O15399) is a missense change. Clinical records from ClinVar 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 0.27 / 1. The record also includes population frequency data and structural context.
R11W (p.Arg11Trp) variant details
- p.Arg11Trp
- TOPMed rs1970668628
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.34
- CADD 25.80
- PolyPhen-2 0.45
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available