Q80K (p.Gln80Lys) variant of FBN2 (Fibrillin-2)
Q80K (p.Gln80Lys) 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.
Q80K (p.Gln80Lys) variant details
- p.Gln80Lys
- TOPMed rs1756881936
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.27
- CADD 22.60
- PolyPhen-2 0.03
- SIFT 0.56
- Population evidence available
- Structural context available