H73Y (p.His73Tyr) variant of MRE11 (P49959)
H73Y (p.His73Tyr) in MRE11 (P49959) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
H73Y (p.His73Tyr) variant details
- p.His73Tyr
- rs1023372148
- ClinGen CA226541862
- ClinVar RCV001300600
- ClinVar RCV004944974
- Uncertain significance
- Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- AlphaMissense 0.10
- MetaLR 0.28
- MetaSVM -0.72
- PolyPhen-2 0.07
- SIFT 0.93
- MutPred 0.48
- ClinVar: Uncertain significance (Ataxia-telangiectasia-like disorder; Hereditary cancer-predispos)
- 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)