S3F (p.Ser3Phe) variant of PRKAR1A (P10644)
S3F (p.Ser3Phe) 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 0.59 / 1. The record also includes published literature and structural context.
S3F (p.Ser3Phe) variant details
- p.Ser3Phe
- rs752643409
- ClinGen CA400751772
- ClinVar RCV004516163
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- AlphaMissense 0.09
- MetaLR 0.67
- MetaSVM 0.51
- PolyPhen-2 0.88
- SIFT 0.00
- MutPred 0.21
- 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)