A27T (p.Ala27Thr) variant of FLCN (Folliculin)
A27T (p.Ala27Thr) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A27T (p.Ala27Thr) variant details
- p.Ala27Thr
- rs779449668
- ClinGen CA8416524
- cosmic curated COSV53257
- ClinVar RCV002044332
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.30
- CADD 20.90
- PolyPhen-2 0.01
- SIFT 0.46
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Birt-Hogg-Dube syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-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)