P61L (p.Pro61Leu) variant of FBN2 (Fibrillin-2)
P61L (p.Pro61Leu) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
P61L (p.Pro61Leu) variant details
- p.Pro61Leu
- 1000Genomes rs200722548
- ExAC rs200722548
- TOPMed rs200722548
- gnomAD rs200722548
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.26
- CADD 18.50
- PolyPhen-2 0.07
- SIFT 0.81
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available