Q22P (p.Gln22Pro) variant of BMPR1A (P36894)
Q22P (p.Gln22Pro) in BMPR1A (P36894) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome; not provid. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
Q22P (p.Gln22Pro) variant details
- p.Gln22Pro
- rs747437716
- ClinGen CA5585413
- ClinVar RCV000480437
- ClinVar RCV002230940
- Conflicting interpretations
- Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome; not provid
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.42
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Conflicting classifications of pathogenicity (Juvenile polyposis syndrome; Hereditary cancer-predisposing synd)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 9.7e-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)