P52R (p.Pro52Arg) variant of ABCA3 (Q99758)
P52R (p.Pro52Arg) in ABCA3 (Q99758) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
P52R (p.Pro52Arg) variant details
- p.Pro52Arg
- ExAC rs761278645
- TOPMed rs761278645
- gnomAD rs761278645
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available