I6V (p.Ile6Val) variant of BMPR1A (P36894)
I6V (p.Ile6Val) in BMPR1A (P36894) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
I6V (p.Ile6Val) variant details
- p.Ile6Val
- rs1842917141
- ClinGen CA377774771
- ClinVar RCV001213055
- ClinVar RCV002402632
- Uncertain significance
- Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- AlphaMissense 0.07
- MetaLR 0.27
- MetaSVM -0.92
- PolyPhen-2 0.00
- SIFT 0.72
- MutPred 0.21
- ClinVar: Uncertain significance (Juvenile polyposis syndrome; Hereditary cancer-predisposing 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)