C8W (p.Cys8Trp) variant of FBN2 (Fibrillin-2)
C8W (p.Cys8Trp) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
C8W (p.Cys8Trp) variant details
- p.Cys8Trp
- TOPMed rs1756892632
- gnomAD rs1756892632
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.43
- CADD 25.00
- PolyPhen-2 0.11
- SIFT 0.01
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available