S72R (p.Ser72Arg) variant of FBN2 (Fibrillin-2)
S72R (p.Ser72Arg) in FBN2 (Fibrillin-2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S72R (p.Ser72Arg) variant details
- p.Ser72Arg
- gnomAD rs1187992233
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.21
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.09
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available