N35T (p.Asn35Thr) variant of FLCN (Folliculin)
N35T (p.Asn35Thr) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
N35T (p.Asn35Thr) variant details
- p.Asn35Thr
- rs2047310284
- ClinGen CA398535328
- ClinVar RCV002400964
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.18
- CADD 0.11
- PolyPhen-2 0.00
- SIFT 0.87
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)