A50T (p.Ala50Thr) variant of FBN2 (Fibrillin-2)
A50T (p.Ala50Thr) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A50T (p.Ala50Thr) variant details
- p.Ala50Thr
- gnomAD rs1469843755
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.31
- CADD 20.90
- PolyPhen-2 0.06
- SIFT 0.13
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available