G67V (p.Gly67Val) variant of FBN2 (Fibrillin-2)
G67V (p.Gly67Val) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
G67V (p.Gly67Val) variant details
- p.Gly67Val
- TOPMed rs1756883643
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.35
- CADD 22.50
- PolyPhen-2 0.10
- SIFT 0.18
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available