D38H (p.Asp38His) variant of BMPR1A (P36894)
D38H (p.Asp38His) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
D38H (p.Asp38His) variant details
- p.Asp38His
- rs1554888103
- ClinGen CA377446452
- ClinVar RCV000580814
- ClinVar RCV001297003
- Uncertain significance
- Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.33
- AlphaMissense 0.17
- MetaLR 0.33
- MetaSVM -0.48
- CADD 23.90
- PolyPhen-2 0.36
- ClinVar: Uncertain significance (Juvenile polyposis syndrome; Hereditary cancer-predisposing synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)