A13G (p.Ala13Gly) variant of BMPR1A (P36894)
A13G (p.Ala13Gly) 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; Polyposis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A13G (p.Ala13Gly) variant details
- p.Ala13Gly
- rs754015069
- ClinGen CA5585408
- ClinVar RCV001021385
- ClinVar RCV001318382
- Uncertain significance
- Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome; Polyposis
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.19
- CADD 18.90
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Uncertain significance (Juvenile polyposis syndrome; Hereditary cancer-predisposing synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.2e-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)