Q24R (p.Gln24Arg) variant of BMPR1A (P36894)
Q24R (p.Gln24Arg) 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; Hereditary cancer-predisposing syndrome; Polyposis. 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.
Q24R (p.Gln24Arg) variant details
- p.Gln24Arg
- rs1163365235
- ClinGen CA377446217
- ClinVar RCV001176903
- ClinVar RCV001208739
- Uncertain significance
- Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome; Polyposis
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.47
- AlphaMissense 0.14
- MetaLR 0.38
- MetaSVM -0.23
- CADD 23.90
- PolyPhen-2 0.84
- ClinVar: Uncertain significance (Juvenile polyposis syndrome; Hereditary cancer-predisposing 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)