S49P (p.Ser49Pro) variant of FBN2 (Fibrillin-2)
S49P (p.Ser49Pro) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S49P (p.Ser49Pro) variant details
- p.Ser49Pro
- ExAC rs769493727
- gnomAD rs769493727
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.22
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available