T18A (p.Thr18Ala) variant of FLCN (Folliculin)
T18A (p.Thr18Ala) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
T18A (p.Thr18Ala) variant details
- p.Thr18Ala
- rs2047314194
- ClinGen CA2250420706
- ClinVar RCV001331744
- Ensembl rs2047314194
- Uncertain significance
- Birt-Hogg-Dube syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.59
- CADD 24.60
- PolyPhen-2 0.30
- SIFT 0.12
- ClinVar: Uncertain significance (Birt-Hogg-Dube syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)