E48K (p.Glu48Lys) variant of GRIN2A (Q12879)
E48K (p.Glu48Lys) in GRIN2A (Q12879) 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 0.54 / 1. The record also includes structural context.
E48K (p.Glu48Lys) variant details
- p.Glu48Lys
- rs1555491526
- ClinGen CA394715642
- cosmic curated COSV58059
- ClinVar RCV000514616
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- AlphaMissense 0.47
- MetaLR 0.56
- MetaSVM 0.09
- PolyPhen-2 0.03
- SIFT 0.02
- MutPred 0.48
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available