P32L (p.Pro32Leu) variant of FBN2 (Fibrillin-2)
P32L (p.Pro32Leu) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
P32L (p.Pro32Leu) variant details
- p.Pro32Leu
- 1000Genomes rs749158374
- ExAC rs749158374
- TOPMed rs749158374
- gnomAD rs749158374
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.32
- CADD 22.60
- PolyPhen-2 0.08
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available