P33L (p.Pro33Leu) variant of FBN2 (Fibrillin-2)
P33L (p.Pro33Leu) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
P33L (p.Pro33Leu) variant details
- p.Pro33Leu
- Ensembl rs943309521
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.18
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available