P28T (p.Pro28Thr) variant of FLCN (Folliculin)
P28T (p.Pro28Thr) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
P28T (p.Pro28Thr) variant details
- p.Pro28Thr
- rs749758787
- ClinGen CA398535368
- ClinVar RCV002430326
- ExAC rs749758787
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.57
- CADD 25.70
- PolyPhen-2 0.10
- SIFT 0.28
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)