K36E (p.Lys36Glu) variant of FBN2 (Fibrillin-2)
K36E (p.Lys36Glu) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
K36E (p.Lys36Glu) variant details
- p.Lys36Glu
- ExAC rs767531338
- TOPMed rs767531338
- gnomAD rs767531338
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.22
- CADD 21.70
- PolyPhen-2 0.07
- SIFT 0.73
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available