K43N (p.Lys43Asn) variant of BMPR1A (P36894)
K43N (p.Lys43Asn) 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 record also includes variant effect predictions, published literature, and structural context.
K43N (p.Lys43Asn) variant details
- p.Lys43Asn
- rs1843126055
- ClinGen CA377446567
- ClinVar RCV001065884
- ClinVar RCV002379596
- Uncertain significance
- Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- Missense
- MetaLR 0.40
- MetaSVM -0.39
- PolyPhen-2 0.85
- SIFT 0.00
- MutPred 0.19
- ClinVar: Uncertain significance (Juvenile polyposis syndrome; Hereditary cancer-predisposing synd)
- EBI: Likely benign
- UniProt: Likely benign
- 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)