M47K (p.Met47Lys) variant of PRKAR1A (P10644)
M47K (p.Met47Lys) 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.
M47K (p.Met47Lys) variant details
- p.Met47Lys
- rs2085406538
- ClinGen CA400752048
- ClinVar RCV003216337
- 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)