E30Q (p.Glu30Gln) variant of GRIN2D (O15399)
E30Q (p.Glu30Gln) 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 0.28 / 1. The record also includes population frequency data and structural context.
E30Q (p.Glu30Gln) variant details
- p.Glu30Gln
- Ensembl rs1970669406
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 21.60
- PolyPhen-2 0.09
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available