H31P (p.His31Pro) variant of BMPR1A (P36894)
H31P (p.His31Pro) 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; not provided; Hereditary cancer-predisposing syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
H31P (p.His31Pro) variant details
- p.His31Pro
- rs1589763313
- ClinGen CA377446323
- ClinVar RCV000793903
- ClinVar RCV001180744
- Uncertain significance
- Juvenile polyposis syndrome; not provided; Hereditary cancer-predisposing syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- AlphaMissense 0.22
- MetaLR 0.42
- MetaSVM -0.19
- PolyPhen-2 0.90
- SIFT 0.05
- MutPred 0.20
- ClinVar: Uncertain significance (Juvenile polyposis syndrome; not provided; Hereditary cancer-pre)
- 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)