W22C (p.Trp22Cys) variant of FBN2 (Fibrillin-2)
W22C (p.Trp22Cys) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
W22C (p.Trp22Cys) variant details
- p.Trp22Cys
- ExAC rs768008045
- gnomAD rs768008045
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.30
- CADD 24.80
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available