I8F (p.Ile8Phe) variant of BMPR1A (P36894)
I8F (p.Ile8Phe) 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 0.40 / 1. The record also includes published literature and structural context.
I8F (p.Ile8Phe) variant details
- p.Ile8Phe
- rs863224719
- ClinGen CA377774784
- ClinVar RCV002428466
- ClinVar RCV003763168
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- AlphaMissense 0.10
- MetaLR 0.34
- MetaSVM -0.45
- PolyPhen-2 0.06
- SIFT 0.03
- MutPred 0.25
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Juvenile polyposis synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)