I8V (p.Ile8Val) variant of BMPR1A (P36894)
I8V (p.Ile8Val) 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; Hereditary cancer-predisposing syndrome; not provid. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
I8V (p.Ile8Val) variant details
- p.Ile8Val
- rs863224719
- ClinGen CA335860
- ClinVar RCV000195699
- ClinVar RCV000214029
- Conflicting interpretations
- Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome; not provid
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.12
- AlphaMissense 0.10
- MetaLR 0.34
- MetaSVM -0.45
- CADD 13.90
- PolyPhen-2 0.06
- ClinVar: Conflicting classifications of pathogenicity (Juvenile polyposis syndrome; Hereditary cancer-predisposing synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)