C8Y (p.Cys8Tyr) variant of FLCN (Folliculin)
C8Y (p.Cys8Tyr) in FLCN (Folliculin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
C8Y (p.Cys8Tyr) variant details
- p.Cys8Tyr
- NCI-TCGA Cosmic COSV9954
- cosmic curated COSV99549
- Ensembl rs2145050709
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- REVEL 0.94
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available