Q3H (p.Gln3His) variant of BMPR1A (P36894)
Q3H (p.Gln3His) 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; not provided; Juvenile polyposis syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
Q3H (p.Gln3His) variant details
- p.Gln3His
- rs1589757057
- ClinGen CA377774755
- ClinVar RCV001230986
- ClinVar RCV001773524
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Juvenile polyposis syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.19
- CADD 15.50
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Juvenile)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3e-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)