E45K (p.Glu45Lys) variant of BMPR1A (P36894)
E45K (p.Glu45Lys) 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. The record also includes variant effect predictions, published literature, and structural context.
E45K (p.Glu45Lys) variant details
- p.Glu45Lys
- rs1554888112
- ClinGen CA377446593
- ClinVar RCV000536243
- Ensembl rs1554888112
- Uncertain significance
- Juvenile polyposis syndrome
- Missense
- MetaLR 0.39
- MetaSVM -0.57
- PolyPhen-2 0.00
- SIFT 0.05
- MutPred 0.26
- ClinVar: Uncertain significance (Juvenile polyposis syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Juvenile Polyposis Syndrome. (PMID 20301642)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)