L7V (p.Leu7Val) variant of FBN2 (Fibrillin-2)
L7V (p.Leu7Val) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
L7V (p.Leu7Val) variant details
- p.Leu7Val
- ExAC rs747952690
- TOPMed rs747952690
- gnomAD rs747952690
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.20
- CADD 22.80
- PolyPhen-2 0.58
- SIFT 0.10
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available