Q22E (p.Gln22Glu) variant of BMPR1A (P36894)
Q22E (p.Gln22Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Q22E (p.Gln22Glu) variant details
- p.Gln22Glu
- rs1554886821
- ClinGen CA377774870
- ClinVar RCV001025342
- ClinVar RCV001295998
- Uncertain significance
- Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.16
- AlphaMissense 0.09
- MetaLR 0.32
- MetaSVM -0.74
- CADD 12.10
- PolyPhen-2 0.11
- ClinVar: Uncertain significance (Juvenile polyposis syndrome; Hereditary cancer-predisposing synd)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)