R50T (p.Arg50Thr) variant of SFTPB (P07988)
R50T (p.Arg50Thr) in SFTPB (P07988) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
R50T (p.Arg50Thr) variant details
- p.Arg50Thr
- ExAC rs749043722
- TOPMed rs749043722
- gnomAD rs749043722
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available