T33A (p.Thr33Ala) variant of BMPR1A (P36894)
T33A (p.Thr33Ala) 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; not specif. 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.
T33A (p.Thr33Ala) variant details
- p.Thr33Ala
- rs748515167
- ClinGen CA5585432
- ClinVar RCV000552227
- ClinVar RCV000565843
- Conflicting interpretations
- Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome; not specif
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.24
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (Juvenile polyposis syndrome; Hereditary cancer-predisposing synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- 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)