D33Y (p.Asp33Tyr) variant of FLCN (Folliculin)
D33Y (p.Asp33Tyr) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
D33Y (p.Asp33Tyr) variant details
- p.Asp33Tyr
- rs386833401
- ClinGen CA10580176
- cosmic curated COSV10583
- ClinVar RCV000222636
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.46
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)