P57R (p.Pro57Arg) variant of BMPR1A (P36894)
P57R (p.Pro57Arg) 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; Polyposis syndrome, hereditary mixed, 2; Hereditary. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
P57R (p.Pro57Arg) variant details
- p.Pro57Arg
- rs1057517610
- ClinGen CA16042120
- ClinVar RCV000494075
- ClinVar RCV001358782
- Uncertain significance
- Juvenile polyposis syndrome; Polyposis syndrome, hereditary mixed, 2; Hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.36
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.81
- ClinVar: Uncertain significance (Juvenile polyposis syndrome; Polyposis syndrome, hereditary mixe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- 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)