R5P (p.Arg5Pro) variant of FBN2 (Fibrillin-2)
R5P (p.Arg5Pro) in FBN2 (Fibrillin-2) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
R5P (p.Arg5Pro) variant details
- p.Arg5Pro
- rs1194684025
- ClinGen CA360763589
- ClinVar RCV001758006
- TOPMed rs1194684025
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.47
- CADD 28.10
- PolyPhen-2 0.86
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available