P30A (p.Pro30Ala) variant of FLCN (Folliculin)
P30A (p.Pro30Ala) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Birt-Hogg-Dube syndrome. The record also includes published literature and structural context.
P30A (p.Pro30Ala) variant details
- p.Pro30Ala
- rs2047311657
- ClinGen CA398535359
- ClinVar RCV001979306
- TOPMed rs2047311657
- Uncertain significance
- Birt-Hogg-Dube syndrome
- Missense
- ClinVar: Uncertain significance (Birt-Hogg-Dube syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Birt-Hogg-Dubé Syndrome. (PMID 20301695)
- Cited in: Canadian guideline on genetic screening for hereditary renal cell cancers. (PMID 24319509)