V63A (p.Val63Ala) variant of SFTPB (P07988)
V63A (p.Val63Ala) in SFTPB (P07988) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary pulmonary alveolar proteinosis. The record also includes structural context.
V63A (p.Val63Ala) variant details
- p.Val63Ala
- rs2466706948
- ClinGen CA347492492
- ClinVar RCV004455846
- Likely benign
- Hereditary pulmonary alveolar proteinosis
- Missense
- ClinVar: Likely benign (Hereditary pulmonary alveolar proteinosis)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available