M84T (p.Met84Thr) variant of MRE11 (P49959)
M84T (p.Met84Thr) in MRE11 (P49959) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Ataxia-telangiectasia-like disorder; MR. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
M84T (p.Met84Thr) variant details
- p.Met84Thr
- rs1482454029
- ClinGen CA382379543
- ClinVar RCV001015831
- ClinVar RCV002549428
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Ataxia-telangiectasia-like disorder; MR
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.85
- CADD 25.90
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Ataxia-telangiectasia-l)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)