H55Y (p.His55Tyr) variant of ABCA4 (P78363)
H55Y (p.His55Tyr) in ABCA4 (P78363) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in CORD3. The record also includes structural context.
H55Y (p.His55Tyr) variant details
- p.His55Tyr
- Ensembl rs749959652
- Uncertain significance
- in CORD3
- Missense
- EBI: uncertain significance (in CORD3)
- UniProt: Uncertain significance (in CORD3)
- Structural context available