K114N (p.Lys114Asn) variant of ABCA3 (Q99758)
K114N (p.Lys114Asn) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary pulmonary alveolar proteinosis. The record also includes structural context.
K114N (p.Lys114Asn) variant details
- p.Lys114Asn
- rs2505675729
- ClinGen CA394350743
- ClinVar RCV004315343
- Uncertain significance
- Hereditary pulmonary alveolar proteinosis
- Missense
- ClinVar: Uncertain significance (Hereditary pulmonary alveolar proteinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available