G58D (p.Gly58Asp) variant of MRE11 (P49959)
G58D (p.Gly58Asp) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G58D (p.Gly58Asp) variant details
- p.Gly58Asp
- rs1482890077
- ClinGen CA382379902
- cosmic curated COSV10011
- ClinVar RCV002239160
- Uncertain significance
- Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.94
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Ataxia-telangiectasia-like disorder; Hereditary cancer-predispos)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)