G23R (p.Gly23Arg) variant of BMPR1A (P36894)
G23R (p.Gly23Arg) in BMPR1A (P36894) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Polyposis syndrome, hereditary mixed, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
G23R (p.Gly23Arg) variant details
- p.Gly23Arg
- rs1131691171
- ClinGen CA377774875
- ClinVar RCV000494227
- Ensembl rs1131691171
- Likely pathogenic
- Polyposis syndrome, hereditary mixed, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- AlphaMissense 0.59
- MetaLR 0.56
- MetaSVM 0.21
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.48
- ClinVar: Likely pathogenic (Polyposis syndrome, hereditary mixed, 2)
- EBI: Likely pathogenic
- UniProt: Likely 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)