D41H (p.Asp41His) variant of MRE11 (P49959)
D41H (p.Asp41His) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
D41H (p.Asp41His) variant details
- p.Asp41His
- rs116679717
- ClinGen CA10579423
- ClinVar RCV000219364
- ClinVar RCV001298208
- Uncertain significance
- Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome; At
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.60
- CADD 18.10
- PolyPhen-2 0.77
- SIFT 0.05
- ClinVar: Uncertain significance (Ataxia-telangiectasia-like disorder; Hereditary cancer-predispos)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 0.00046)
- 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)