R20C (p.Arg20Cys) variant of BMPR1A (P36894)
R20C (p.Arg20Cys) in BMPR1A (P36894) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Polyposis syndrome, hereditary mixed, 2; Juvenile polyposis syndrome; Hereditary. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R20C (p.Arg20Cys) variant details
- p.Arg20Cys
- rs1472397694
- ClinGen CA377774860
- ClinVar RCV000553756
- ClinVar RCV000580767
- Uncertain significance
- Polyposis syndrome, hereditary mixed, 2; Juvenile polyposis syndrome; Hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.12
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (Polyposis syndrome, hereditary mixed, 2; Juvenile polyposis synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-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)