V82G (p.Val82Gly) variant of FBN2 (Fibrillin-2)
V82G (p.Val82Gly) 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 0.52 / 1. The record also includes population frequency data and structural context.
V82G (p.Val82Gly) variant details
- p.Val82Gly
- rs1235527803
- ClinGen CA360761797
- ClinVar RCV003110084
- TOPMed rs1235527803
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.48
- CADD 23.80
- PolyPhen-2 0.02
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available