D33E (p.Asp33Glu) variant of FLCN (Folliculin)
D33E (p.Asp33Glu) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided; Birt-Hogg-Dube syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
D33E (p.Asp33Glu) variant details
- p.Asp33Glu
- rs375348725
- ClinGen CA8416515
- ClinVar RCV000816744
- ClinVar RCV001019971
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Birt-Hogg-Dube syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.20
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Birt-Hogg)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-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)