H63P (p.His63Pro) variant of MRE11 (P49959)
H63P (p.His63Pro) in MRE11 (P49959) 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 0.83 / 1. The record also includes published literature and structural context.
H63P (p.His63Pro) variant details
- p.His63Pro
- rs786203584
- ClinGen CA382379816
- ClinVar RCV000567751
- Ensembl rs786203584
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- AlphaMissense 0.99
- MetaLR 0.77
- MetaSVM 0.74
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.83
- 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)