F120V (p.Phe120Val) variant of SFTPB (P07988)
F120V (p.Phe120Val) in SFTPB (P07988) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
F120V (p.Phe120Val) variant details
- p.Phe120Val
- ESP rs138729391
- ExAC rs138729391
- TOPMed rs138729391
- gnomAD rs138729391
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available