R75P (p.Arg75Pro) variant of FBN2 (Fibrillin-2)
R75P (p.Arg75Pro) in FBN2 (Fibrillin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
R75P (p.Arg75Pro) variant details
- p.Arg75Pro
- TOPMed rs1756882487
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.58
- CADD 25.20
- PolyPhen-2 0.22
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available