S72T (p.Ser72Thr) variant of FBN2 (Fibrillin-2)
S72T (p.Ser72Thr) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S72T (p.Ser72Thr) variant details
- p.Ser72Thr
- gnomAD rs1388339879
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.20
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.07
- Population evidence available
- Structural context available