S19F (p.Ser19Phe) variant of FBN1 (Fibrillin-1)
S19F (p.Ser19Phe) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes variant effect predictions, population frequency data, and published literature.
S19F (p.Ser19Phe) variant details
- p.Ser19Phe
- rs193922218
- ClinGen CA015969
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10035
- Likely pathogenic
- Missense
- REVEL 0.38
- MetaLR 0.48
- MetaSVM -0.14
- CADD 26.10
- PolyPhen-2 0.96
- SIFT 0.25
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Cited in: Recommendations for physical activity and recreational sports participation for young patients with genetic… (PMID 15184297)
- Cited in: Guidelines for the diagnosis and management of Marfan syndrome. (PMID 17188935)