L122R (p.Leu122Arg) variant of SFTPB (P07988)
L122R (p.Leu122Arg) in SFTPB (P07988) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
L122R (p.Leu122Arg) variant details
- p.Leu122Arg
- rs1677658252
- ClinGen CA1266878774
- ClinVar RCV000014089
- ClinVar RCV002513036
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Congenital alveolar proteinosis caused by a novel mutation of the surfactant protein B gene and misalignment of lung… (PMID 10378403)