E30K (p.Glu30Lys) variant of GRIN2D (O15399)
E30K (p.Glu30Lys) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E30K (p.Glu30Lys) variant details
- p.Glu30Lys
- rs1970669406
- ClinGen CA406688258
- ClinVar RCV001252261
- ClinVar RCV001879846
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.25
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.5e-06)
- Structural context available
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)
- Cited in: Comprehensive evaluation of the child with intellectual disability or global developmental delays. (PMID 25157020)