Q24L (p.Gln24Leu) variant of BMPR1A (P36894)
Q24L (p.Gln24Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
Q24L (p.Gln24Leu) variant details
- p.Gln24Leu
- rs1163365235
- ClinGen CA377446219
- ClinVar RCV001804292
- gnomAD rs1163365235
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- AlphaMissense 0.14
- MetaLR 0.38
- MetaSVM -0.23
- PolyPhen-2 0.84
- SIFT 0.01
- MutPred 0.31
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)