Y82H (p.Tyr82His) variant of MRE11 (P49959)
Y82H (p.Tyr82His) 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; At. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
Y82H (p.Tyr82His) variant details
- p.Tyr82His
- rs587781343
- ClinGen CA163828
- ClinVar RCV000129120
- ClinVar RCV001339593
- Uncertain significance
- Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome; At
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.87
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.16
- ClinVar: Uncertain significance (Ataxia-telangiectasia-like disorder; Hereditary cancer-predispos)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)