L536P (p.Leu536Pro) variant of FLCN (Folliculin)
L536P (p.Leu536Pro) 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 0.75 / 1. The record also includes published literature and structural context.
L536P (p.Leu536Pro) variant details
- p.Leu536Pro
- rs2144810654
- ClinGen CA398530389
- ClinVar RCV003608161
- Uncertain significance
- Birt-Hogg-Dube syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- AlphaMissense 0.91
- MetaLR 0.73
- MetaSVM 0.51
- PolyPhen-2 0.97
- SIFT 0.01
- EVE 0.78
- ClinVar: Uncertain significance (Birt-Hogg-Dube syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)