E531G (p.Glu531Gly) variant of ABCA4 (P78363)
E531G (p.Glu531Gly) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Stargardt disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
E531G (p.Glu531Gly) variant details
- p.Glu531Gly
- rs145718830
- ClinGen CA958469
- ClinVar RCV001045652
- ClinVar RCV005429299
- Pathogenic/Likely pathogenic
- Stargardt disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- REVEL 0.97
- MetaLR 0.97
- MetaSVM 1.10
- CADD 28.70
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Stargardt disease; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available