P30S (p.Pro30Ser) variant of FLCN (Folliculin)
P30S (p.Pro30Ser) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
P30S (p.Pro30Ser) variant details
- p.Pro30Ser
- rs2047311657
- ClinGen CA398535358
- ClinVar RCV001985400
- ClinVar RCV004616909
- Uncertain significance
- Birt-Hogg-Dube syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.53
- CADD 26.30
- PolyPhen-2 0.07
- SIFT 0.07
- ClinVar: Uncertain significance (Birt-Hogg-Dube syndrome; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)