T55I (p.Thr55Ile) variant of BMPR1A (P36894)
T55I (p.Thr55Ile) 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; Juvenile polyposis syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
T55I (p.Thr55Ile) variant details
- p.Thr55Ile
- rs1843126856
- ClinGen CA377446790
- ClinVar RCV001207115
- ClinVar RCV005782107
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.30
- CADD 21.50
- PolyPhen-2 0.10
- SIFT 0.15
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Juvenile polyposis synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)