T33S (p.Thr33Ser) variant of BMPR1A (P36894)
T33S (p.Thr33Ser) 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; BMPR1A-rel. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
T33S (p.Thr33Ser) variant details
- p.Thr33Ser
- rs142454490
- ClinGen CA5585433
- ClinVar RCV000467157
- ClinVar RCV000569418
- Conflicting interpretations
- Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome; BMPR1A-rel
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.26
- CADD 19.50
- PolyPhen-2 0.01
- SIFT 0.22
- ClinVar: Conflicting classifications of pathogenicity (Juvenile polyposis syndrome; Hereditary cancer-predisposing synd)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)