M29T (p.Met29Thr) variant of BMPR1A (P36894)
M29T (p.Met29Thr) 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 0.45 / 1. The record also includes published literature and structural context.
M29T (p.Met29Thr) variant details
- p.Met29Thr
- rs2133394352
- ClinGen CA377446290
- ClinVar RCV001986532
- Ensembl rs2133394352
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- AlphaMissense 0.44
- MetaLR 0.40
- MetaSVM -0.43
- PolyPhen-2 0.04
- SIFT 0.00
- MutPred 0.36
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Juvenile polyposis synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Juvenile Polyposis Syndrome. (PMID 20301642)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)