I4V (p.Ile4Val) variant of FLCN (Folliculin)
I4V (p.Ile4Val) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial spontaneous pneumothorax; Birt-Hogg-Dube syndrome; 17p11.2 microduplica. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
I4V (p.Ile4Val) variant details
- p.Ile4Val
- rs1555611575
- ClinGen CA398535516
- ClinVar RCV000635529
- ClinVar RCV001124934
- Uncertain significance
- Familial spontaneous pneumothorax; Birt-Hogg-Dube syndrome; 17p11.2 microduplica
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.29
- CADD 18.70
- PolyPhen-2 0.03
- SIFT 0.61
- ClinVar: Uncertain significance (Familial spontaneous pneumothorax; Birt-Hogg-Dube syndrome; 17p1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Potocki-Lupski Syndrome. (PMID 28837307)
- Cited in: Birt-Hogg-Dubé Syndrome. (PMID 20301695)