L21P (p.Leu21Pro) variant of FBN2 (Fibrillin-2)
L21P (p.Leu21Pro) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L21P (p.Leu21Pro) variant details
- p.Leu21Pro
- TOPMed rs1756891246
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.52
- CADD 24.80
- PolyPhen-2 0.23
- SIFT 0.03
- Population evidence available
- Structural context available