T18S (p.Thr18Ser) variant of FLCN (Folliculin)
T18S (p.Thr18Ser) 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 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
T18S (p.Thr18Ser) variant details
- p.Thr18Ser
- rs2047314341
- ClinVar RCV004576620
- Ensembl rs2047314341
- Uncertain significance
- Birt-Hogg-Dube syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.62
- CADD 26.00
- PolyPhen-2 0.64
- SIFT 0.03
- ClinVar: Uncertain significance (Birt-Hogg-Dube syndrome 1)
- 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)