P28S (p.Pro28Ser) variant of FLCN (Folliculin)
P28S (p.Pro28Ser) 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; Familial spontaneous pneumothorax; Birt. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
P28S (p.Pro28Ser) variant details
- p.Pro28Ser
- rs749758787
- ClinGen CA8416522
- ClinVar RCV000229497
- ClinVar RCV000380278
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Familial spontaneous pneumothorax; Birt
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.49
- CADD 26.30
- PolyPhen-2 0.07
- SIFT 0.36
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Familial spontaneous pn)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Cited in: Potocki-Lupski Syndrome. (PMID 28837307)
- Cited in: Birt-Hogg-Dubé Syndrome. (PMID 20301695)