Q22* (p.Gln22Ter) variant of BMPR1A (P36894)
Q22* (p.Gln22Ter) in BMPR1A (P36894) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
Q22* (p.Gln22Ter) variant details
- p.Gln22Ter
- rs1554886821
- ClinGen CA377774871
- NCI-TCGA Cosmic COSV1009
- ClinVar RCV000521828
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.392
- AlphaMissense 0.09
- MetaLR 0.32
- MetaSVM -0.74
- PolyPhen-2 0.11
- SIFT 0.20
- MutPred 0.35
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)