C2541W (p.Cys2541Trp) variant of FBN1 (Fibrillin-1)
C2541W (p.Cys2541Trp) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Acromicric dysplasia. The record also includes variant effect predictions.
C2541W (p.Cys2541Trp) variant details
- p.Cys2541Trp
- rs2141221899
- ClinGen CA392325233
- ClinVar RCV002249043
- Ensembl rs2141221899
- Likely pathogenic
- Acromicric dysplasia
- Missense
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- SIFT 0.00
- MutPred 0.99
- ClinVar: Likely pathogenic (Acromicric dysplasia)
- EBI: Likely pathogenic (found in a patient with Marfan-like syndrome)
- UniProt: Likely pathogenic (found in a patient with Marfan-like syndrome)