R17C (p.Arg17Cys) variant of FLCN (Folliculin)
R17C (p.Arg17Cys) 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; Familial spontaneous pneumothorax; 17p11.2 microduplication s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
R17C (p.Arg17Cys) variant details
- p.Arg17Cys
- rs765251703
- ClinGen CA8416533
- NCI-TCGA Cosmic COSV5325
- cosmic curated COSV53259
- Uncertain significance
- Colorectal cancer; Familial spontaneous pneumothorax; 17p11.2 microduplication s
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.74
- CADD 32.00
- PolyPhen-2 0.90
- SIFT 0.01
- ClinVar: Uncertain significance (Colorectal cancer; Familial spontaneous pneumothorax; 17p11.2 mi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Potocki-Lupski Syndrome. (PMID 28837307)
- Cited in: Birt-Hogg-Dubé Syndrome. (PMID 20301695)