A23T (p.Ala23Thr) variant of GRIN2D (O15399)
A23T (p.Ala23Thr) in GRIN2D (O15399) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A23T (p.Ala23Thr) variant details
- p.Ala23Thr
- TOPMed rs1970668991
- gnomAD rs1970668991
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.60
- CADD 23.10
- PolyPhen-2 0.19
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available