V5M (p.Val5Met) variant of FLCN (Folliculin)
V5M (p.Val5Met) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided; Birt-Hogg-Dube syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
V5M (p.Val5Met) variant details
- p.Val5Met
- rs767235709
- ClinGen CA8416539
- NCI-TCGA Cosmic COSV9955
- cosmic curated COSV99550
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Birt-Hogg-Dube syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.56
- CADD 25.20
- PolyPhen-2 0.96
- SIFT 0.11
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Birt-Hogg)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)