L59P (p.Leu59Pro) variant of FBN2 (Fibrillin-2)
L59P (p.Leu59Pro) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
L59P (p.Leu59Pro) variant details
- p.Leu59Pro
- ESP rs143710539
- ExAC rs143710539
- TOPMed rs143710539
- gnomAD rs143710539
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.20
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available