S53P (p.Ser53Pro) variant of BLM (RecQ-like DNA helicase BLM)
S53P (p.Ser53Pro) in BLM (RecQ-like DNA helicase BLM) 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 0.35 / 1. The record also includes published literature and structural context.
S53P (p.Ser53Pro) variant details
- p.Ser53Pro
- rs1555418248
- ClinGen CA393839505
- ClinVar RCV002405784
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- AlphaMissense 0.07
- MetaLR 0.14
- MetaSVM -0.99
- PolyPhen-2 0.97
- SIFT 0.10
- 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)