M47T (p.Met47Thr) variant of PRKAR1A (P10644)
M47T (p.Met47Thr) 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 0.42 / 1. The record also includes published literature and structural context.
M47T (p.Met47Thr) variant details
- p.Met47Thr
- rs2085406538
- ClinGen CA400752049
- ClinVar RCV003165332
- TOPMed rs2085406538
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- AlphaMissense 0.33
- MetaLR 0.36
- MetaSVM -0.49
- PolyPhen-2 0.01
- SIFT 0.07
- MutPred 0.66
- 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)