P2R (p.Pro2Arg) variant of BMPR1A (P36894)
P2R (p.Pro2Arg) in BMPR1A (P36894) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome; not provid. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P2R (p.Pro2Arg) variant details
- p.Pro2Arg
- rs143248687
- ClinGen CA5585404
- ClinVar RCV002848194
- ClinVar RCV003585303
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome; not provid
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.26
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Juvenile polyposis synd)
- EBI: Variant of uncertain significance (in dbSNP:rs11528010)
- UniProt: Uncertain significance (in dbSNP:rs11528010)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)