F16Y (p.Phe16Tyr) variant of BMPR1A (P36894)
F16Y (p.Phe16Tyr) in BMPR1A (P36894) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
F16Y (p.Phe16Tyr) variant details
- p.Phe16Tyr
- rs151235720
- ClinGen CA5585409
- ClinVar RCV001222063
- ClinVar RCV002339588
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.14
- AlphaMissense 0.19
- MetaLR 0.32
- MetaSVM -0.47
- CADD 21.00
- PolyPhen-2 0.30
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Juvenile polyposis synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-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)
- Cited in: Juvenile Polyposis Syndrome. (PMID 20301642)