R3P (p.Arg3Pro) variant of FBN1 (Fibrillin-1)
R3P (p.Arg3Pro) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions, population frequency data, and published literature.
R3P (p.Arg3Pro) variant details
- p.Arg3Pro
- rs149929989
- ClinGen CA060335
- ClinVar RCV000773470
- ClinVar RCV001338759
- Likely benign
- Missense
- REVEL 0.07
- MetaLR 0.38
- MetaSVM -0.43
- CADD 22.70
- PolyPhen-2 0.12
- SIFT 0.23
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)