Y12F (p.Tyr12Phe) variant of FBN2 (Fibrillin-2)
Y12F (p.Tyr12Phe) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
Y12F (p.Tyr12Phe) variant details
- p.Tyr12Phe
- ExAC rs753955682
- TOPMed rs753955682
- gnomAD rs753955682
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.21
- CADD 21.40
- PolyPhen-2 0.02
- SIFT 0.56
- Population evidence available
- Structural context available