Q24P (p.Gln24Pro) variant of FBN2 (Fibrillin-2)
Q24P (p.Gln24Pro) 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 0.42 / 1. The record also includes population frequency data and structural context.
Q24P (p.Gln24Pro) variant details
- p.Gln24Pro
- ExAC rs764396688
- gnomAD rs764396688
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.41
- CADD 22.20
- PolyPhen-2 0.18
- SIFT 0.37
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available