D33H (p.Asp33His) variant of FLCN (Folliculin)
D33H (p.Asp33His) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
D33H (p.Asp33His) variant details
- p.Asp33His
- rs386833401
- ClinGen CA215939
- ClinVar RCV000034798
- ClinVar RCV001019769
- Benign/Likely benign
- Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.37
- CADD 19.20
- PolyPhen-2 0.04
- SIFT 0.08
- ClinVar: Benign/Likely benign (Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 5.8e-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)