A42S (p.Ala42Ser) variant of FBN1 (Fibrillin-1)
A42S (p.Ala42Ser) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions and population frequency data.
A42S (p.Ala42Ser) variant details
- p.Ala42Ser
- ESP rs377722423
- ExAC rs377722423
- TOPMed rs377722423
- gnomAD rs377722423
- Likely benign
- Missense
- REVEL 0.27
- MetaLR 0.38
- MetaSVM -0.32
- CADD 24.00
- SIFT 0.15
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available