Q24R (p.Gln24Arg) variant of FBN2 (Fibrillin-2)
Q24R (p.Gln24Arg) 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 0.26 / 1. The record also includes population frequency data and structural context.
Q24R (p.Gln24Arg) variant details
- p.Gln24Arg
- rs764396688
- ClinGen CA16604804
- ClinVar RCV000437477
- ExAC rs764396688
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.14
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.71
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available