H9R (p.His9Arg) variant of FLCN (Folliculin)
H9R (p.His9Arg) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Birt-Hogg-Dube syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
H9R (p.His9Arg) variant details
- p.His9Arg
- rs1060502373
- ClinGen CA16615133
- ClinVar RCV000461258
- gnomAD rs1060502373
- Uncertain significance
- Birt-Hogg-Dube syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.97
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Birt-Hogg-Dube syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)