A29P (p.Ala29Pro) variant of PRKAR1A (P10644)
A29P (p.Ala29Pro) in PRKAR1A (P10644) 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 0.36 / 1. The record also includes published literature and structural context.
A29P (p.Ala29Pro) variant details
- p.Ala29Pro
- rs760726941
- ClinGen CA400751938
- ClinVar RCV002447988
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- AlphaMissense 0.08
- MetaLR 0.23
- MetaSVM -0.83
- PolyPhen-2 0.00
- SIFT 0.82
- MutPred 0.54
- 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)