A27V (p.Ala27Val) variant of FLCN (Folliculin)
A27V (p.Ala27Val) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Birt-Hogg-Dube syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- rs757670898
- ClinGen CA8416523
- ClinVar RCV001346690
- ClinVar RCV006274197
- Uncertain significance
- not specified; Birt-Hogg-Dube syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.35
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.32
- ClinVar: Uncertain significance (not specified; Birt-Hogg-Dube syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)