P39R (p.Pro39Arg) variant of FLCN (Folliculin)
P39R (p.Pro39Arg) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Colorectal cancer; Nonpapillary renal cell carcinoma; Familial spontaneous pneum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P39R (p.Pro39Arg) variant details
- p.Pro39Arg
- rs1197656765
- ClinGen CA398535297
- ClinVar RCV000561077
- ClinVar RCV002528985
- Uncertain significance
- Colorectal cancer; Nonpapillary renal cell carcinoma; Familial spontaneous pneum
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.29
- CADD 19.80
- PolyPhen-2 0.03
- SIFT 0.10
- ClinVar: Uncertain significance (Colorectal cancer; Nonpapillary renal cell carcinoma; Familial s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- 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)