L29P (p.Leu29Pro) variant of FLCN (Folliculin)
L29P (p.Leu29Pro) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Birt-Hogg-Dube syndrome 1; Hereditary cancer-predisposing syndrome; Birt-Hogg-Du. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L29P (p.Leu29Pro) variant details
- p.Leu29Pro
- rs150051278
- ClinGen CA8416519
- ClinVar RCV000687044
- ClinVar RCV001556472
- Conflicting interpretations
- Birt-Hogg-Dube syndrome 1; Hereditary cancer-predisposing syndrome; Birt-Hogg-Du
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.50
- CADD 22.90
- PolyPhen-2 0.06
- SIFT 0.28
- ClinVar: Conflicting classifications of pathogenicity (Birt-Hogg-Dube syndrome 1; Hereditary cancer-predisposing syndro)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: Potocki-Lupski Syndrome. (PMID 28837307)
- Cited in: Birt-Hogg-Dubé Syndrome. (PMID 20301695)