A50S (p.Ala50Ser) variant of FBN2 (Fibrillin-2)
A50S (p.Ala50Ser) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A50S (p.Ala50Ser) variant details
- p.Ala50Ser
- cosmic curated COSV52544
- gnomAD rs1469843755
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.29
- CADD 19.60
- PolyPhen-2 0.12
- SIFT 0.15
- Population evidence available
- Structural context available