D33N (p.Asp33Asn) variant of FLCN (Folliculin)
D33N (p.Asp33Asn) 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. The record also includes structural context.
D33N (p.Asp33Asn) variant details
- p.Asp33Asn
- cosmic curated COSV10724
- ExAC rs386833401
- gnomAD rs386833401
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: Benign
- Structural context available