V47F (p.Val47Phe) variant of FBN2 (Fibrillin-2)
V47F (p.Val47Phe) 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 0.40 / 1. The record also includes structural context.
V47F (p.Val47Phe) variant details
- p.Val47Phe
- rs2112810860
- ClinGen CA360762545
- ClinVar RCV001354842
- Ensembl rs2112810860
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- AlphaMissense 0.08
- MetaLR 0.32
- MetaSVM -0.51
- PolyPhen-2 0.23
- SIFT 0.01
- MutPred 0.22
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available