C21R (p.Cys21Arg) variant of FLCN (Folliculin)
C21R (p.Cys21Arg) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Birt-Hogg-Dube syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
C21R (p.Cys21Arg) variant details
- p.Cys21Arg
- rs2544313713
- ClinGen CA398535408
- ClinVar RCV002781282
- ClinVar RCV003324859
- Uncertain significance
- not provided; Birt-Hogg-Dube syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.94
- CADD 29.40
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Birt-Hogg-Dube syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)