G32R (p.Gly32Arg) variant of FLCN (Folliculin)
G32R (p.Gly32Arg) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
G32R (p.Gly32Arg) variant details
- p.Gly32Arg
- rs750221380
- ClinVar RCV004576619
- ClinVar RCV004950804
- ExAC rs750221380
- Uncertain significance
- Birt-Hogg-Dube syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.41
- CADD 23.70
- PolyPhen-2 0.11
- SIFT 0.41
- ClinVar: Uncertain significance (Birt-Hogg-Dube syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available
- Cited in: Birt-Hogg-Dubé Syndrome. (PMID 20301695)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)