V82L (p.Val82Leu) variant of FBN2 (Fibrillin-2)
V82L (p.Val82Leu) in FBN2 (Fibrillin-2) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
V82L (p.Val82Leu) variant details
- p.Val82Leu
- 1000Genomes rs550387143
- ExAC rs550387143
- TOPMed rs550387143
- gnomAD rs550387143
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.10
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.17
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available