D8N (p.Asp8Asn) variant of MRE11 (P49959)
D8N (p.Asp8Asn) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
D8N (p.Asp8Asn) variant details
- p.Asp8Asn
- rs1244361719
- ClinGen CA382381181
- ClinVar RCV003106483
- ClinVar RCV003368041
- Uncertain significance
- Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.28
- CADD 25.20
- PolyPhen-2 0.04
- SIFT 0.04
- ClinVar: Uncertain significance (Ataxia-telangiectasia-like disorder; Hereditary cancer-predispos)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)