P39T (p.Pro39Thr) variant of FLCN (Folliculin)
P39T (p.Pro39Thr) 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; not provided; Birt-Hogg-Dube syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P39T (p.Pro39Thr) variant details
- p.Pro39Thr
- rs1060502375
- ClinGen CA16615393
- ClinVar RCV000461771
- ClinVar RCV002374781
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Birt-Hogg-Dube syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.23
- CADD 11.50
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Birt-Hogg)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-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)