G17C (p.Gly17Cys) variant of FBN2 (Fibrillin-2)
G17C (p.Gly17Cys) 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 0.48 / 1. The record also includes population frequency data and structural context.
G17C (p.Gly17Cys) variant details
- p.Gly17Cys
- TOPMed rs1085307788
- gnomAD rs1085307788
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.49
- CADD 23.70
- PolyPhen-2 0.36
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available