A23G (p.Ala23Gly) variant of GRIN2D (O15399)
A23G (p.Ala23Gly) 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.
A23G (p.Ala23Gly) variant details
- p.Ala23Gly
- TOPMed rs1970669030
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 20.10
- PolyPhen-2 0.26
- SIFT 0.28
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available