R39L (p.Arg39Leu) variant of FBN2 (Fibrillin-2)
R39L (p.Arg39Leu) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R39L (p.Arg39Leu) variant details
- p.Arg39Leu
- ExAC rs753160272
- gnomAD rs753160272
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.24
- CADD 19.50
- PolyPhen-2 0.02
- SIFT 0.26
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available