P47Q (p.Pro47Gln) variant of ABCA4 (P78363)
P47Q (p.Pro47Gln) in ABCA4 (P78363) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions, population frequency data, and structural context.
P47Q (p.Pro47Gln) variant details
- p.Pro47Gln
- 1000Genomes rs143207212
- ESP rs143207212
- ExAC rs143207212
- TOPMed rs143207212
- Uncertain significance
- Missense
- MetaLR 0.87
- MetaSVM 0.90
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available