Q22H (p.Gln22His) variant of BMPR1A (P36894)
Q22H (p.Gln22His) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
Q22H (p.Gln22His) variant details
- p.Gln22His
- rs786204152
- ClinGen CA334351
- ClinVar RCV000168143
- ClinVar RCV000758776
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.15
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-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)