L59R (p.Leu59Arg) variant of FBN2 (Fibrillin-2)
L59R (p.Leu59Arg) 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.
L59R (p.Leu59Arg) variant details
- p.Leu59Arg
- ESP rs143710539
- ExAC rs143710539
- TOPMed rs143710539
- gnomAD rs143710539
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.20
- CADD 12.20
- PolyPhen-2 0.01
- SIFT 0.51
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available