E2031K (p.Glu2031Lys) variant of ABCA4 (P78363)
E2031K (p.Glu2031Lys) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of ABCA4-related retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes structural context.
E2031K (p.Glu2031Lys) variant details
- p.Glu2031Lys
- rs1659353934
- ClinGen CA341279017
- ClinVar RCV001074609
- ClinVar RCV002557915
- Likely pathogenic
- ABCA4-related retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.945
- AlphaMissense 0.86
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.93
- ClinVar: Likely pathogenic (ABCA4-related retinopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available