Y63F (p.Tyr63Phe) variant of FBN2 (Fibrillin-2)
Y63F (p.Tyr63Phe) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
Y63F (p.Tyr63Phe) variant details
- p.Tyr63Phe
- TOPMed rs760014472
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.11
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.72
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available