Q24L (p.Gln24Leu) variant of FBN2 (Fibrillin-2)
Q24L (p.Gln24Leu) in FBN2 (Fibrillin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
Q24L (p.Gln24Leu) variant details
- p.Gln24Leu
- ExAC rs764396688
- gnomAD rs764396688
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.22
- CADD 20.80
- PolyPhen-2 0.03
- SIFT 0.80
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available