S38I (p.Ser38Ile) variant of FLCN (Folliculin)
S38I (p.Ser38Ile) 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 specified; Birt-Hogg-Dube syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S38I (p.Ser38Ile) variant details
- p.Ser38Ile
- rs139418842
- ClinGen CA8416514
- ClinVar RCV000469363
- ClinVar RCV001017432
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not specified; Birt-Hogg-Dube syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.27
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not specified; Birt-Hog)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00048)
- Structural context available
- Cited in: Potocki-Lupski Syndrome. (PMID 28837307)
- Cited in: Birt-Hogg-Dubé Syndrome. (PMID 20301695)