P34T (p.Pro34Thr) variant of FBN2 (Fibrillin-2)
P34T (p.Pro34Thr) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
P34T (p.Pro34Thr) variant details
- p.Pro34Thr
- ExAC rs756426601
- gnomAD rs756426601
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.22
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.46
- Population evidence available
- Structural context available