S1116F (p.Ser1116Phe) variant of ABCA3 (Q99758)
S1116F (p.Ser1116Phe) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Interstitial lung disease due to ABCA3 deficiency. The record also includes structural context.
S1116F (p.Ser1116Phe) variant details
- p.Ser1116Phe
- rs2505623489
- ClinVar RCV004586206
- Likely pathogenic
- Interstitial lung disease due to ABCA3 deficiency
- Missense
- ClinVar: Likely pathogenic (Interstitial lung disease due to ABCA3 deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available