I17L (p.Ile17Leu) variant of BMPR1A (P36894)
I17L (p.Ile17Leu) in BMPR1A (P36894) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Juvenile polyposis syndrome; not specified; Hereditary cancer-predisposing syndr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
I17L (p.Ile17Leu) variant details
- p.Ile17Leu
- rs778886055
- ClinGen CA5585410
- ClinVar RCV000216319
- ClinVar RCV000701225
- Conflicting interpretations
- Juvenile polyposis syndrome; not specified; Hereditary cancer-predisposing syndr
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.20
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.89
- ClinVar: Conflicting classifications of pathogenicity (Juvenile polyposis syndrome; not specified; Hereditary cancer-pr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- 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)