V20L (p.Val20Leu) variant of FBN2 (Fibrillin-2)
V20L (p.Val20Leu) 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 0.39 / 1. The record also includes structural context.
V20L (p.Val20Leu) variant details
- p.Val20Leu
- rs756126862
- ClinGen CA360763223
- ClinVar RCV000513166
- ExAC rs756126862
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- AlphaMissense 0.09
- MetaLR 0.36
- MetaSVM -0.69
- PolyPhen-2 0.00
- SIFT 0.05
- MutPred 0.45
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available