K36Q (p.Lys36Gln) variant of FBN2 (Fibrillin-2)
K36Q (p.Lys36Gln) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
K36Q (p.Lys36Gln) variant details
- p.Lys36Gln
- ExAC rs767531338
- TOPMed rs767531338
- gnomAD rs767531338
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.21
- CADD 22.10
- PolyPhen-2 0.10
- SIFT 0.47
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available