K35R (p.Lys35Arg) variant of FBN1 (Fibrillin-1)
K35R (p.Lys35Arg) in FBN1 (Fibrillin-1) is a missense change. The record also includes variant effect predictions and population frequency data.
K35R (p.Lys35Arg) variant details
- p.Lys35Arg
- 1000Genomes rs554167248
- ExAC rs554167248
- gnomAD rs554167248
- Missense
- REVEL 0.26
- CADD 25.30
- PolyPhen-2 0.90
- SIFT 0.40
- Population evidence available