R4K (p.Arg4Lys) variant of FBN2 (Fibrillin-2)
R4K (p.Arg4Lys) 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.
R4K (p.Arg4Lys) variant details
- p.Arg4Lys
- 1000Genomes rs2112811246
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.21
- CADD 14.80
- PolyPhen-2 0.09
- SIFT 0.11
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available