P28R (p.Pro28Arg) variant of FLCN (Folliculin)
P28R (p.Pro28Arg) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Hereditary cancer-predisposing syndrome; not provided; Birt-Hogg-Dube syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
P28R (p.Pro28Arg) variant details
- p.Pro28Arg
- rs780588085
- ClinGen CA8416521
- ClinVar RCV000466986
- ClinVar RCV001017707
- Benign/Likely benign
- Hereditary cancer-predisposing syndrome; not provided; Birt-Hogg-Dube syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.60
- CADD 24.70
- PolyPhen-2 0.04
- SIFT 0.38
- ClinVar: Benign/Likely benign (Hereditary cancer-predisposing syndrome; not provided; Birt-Hogg)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:SHE population (allele frequency 0.056)
- 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)