A13T (p.Ala13Thr) variant of BMPR1A (P36894)
A13T (p.Ala13Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A13T (p.Ala13Thr) variant details
- p.Ala13Thr
- rs200115604
- ClinGen CA10582739
- ClinVar RCV000572173
- ClinVar RCV001349975
- Conflicting interpretations
- Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.25
- AlphaMissense 0.10
- MetaLR 0.34
- MetaSVM -0.40
- CADD 18.20
- PolyPhen-2 0.03
- ClinVar: Conflicting classifications of pathogenicity (Juvenile polyposis syndrome; Hereditary cancer-predisposing synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- 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)