E53Q (p.Glu53Gln) variant of ABCA4 (P78363)
E53Q (p.Glu53Gln) in ABCA4 (P78363) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions and structural context.
E53Q (p.Glu53Gln) variant details
- p.Glu53Gln
- ExAC rs764744217
- gnomAD rs764744217
- Pathogenic
- Missense
- MetaLR 0.95
- MetaSVM 1.08
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available