R9K (p.Arg9Lys) variant of BMPR1A (P36894)
R9K (p.Arg9Lys) 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 0.38 / 1. The record also includes published literature and structural context.
R9K (p.Arg9Lys) variant details
- p.Arg9Lys
- rs766269417
- ClinGen CA377774792
- ClinVar RCV002302880
- ClinVar RCV002454623
- Uncertain significance
- Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- AlphaMissense 0.11
- MetaLR 0.28
- MetaSVM -0.88
- PolyPhen-2 0.00
- SIFT 0.33
- MutPred 0.39
- 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)