V20M (p.Val20Met) variant of FBN2 (Fibrillin-2)
V20M (p.Val20Met) 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.
V20M (p.Val20Met) variant details
- p.Val20Met
- ExAC rs756126862
- gnomAD rs756126862
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.23
- AlphaMissense 0.09
- MetaLR 0.36
- MetaSVM -0.69
- CADD 23.80
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available