M26T (p.Met26Thr) variant of MRE11 (P49959)
M26T (p.Met26Thr) in MRE11 (P49959) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome; no. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
M26T (p.Met26Thr) variant details
- p.Met26Thr
- rs372068015
- ClinGen CA299295
- cosmic curated COSV10610
- ClinVar RCV000160576
- Conflicting interpretations
- Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome; no
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.49
- CADD 23.40
- PolyPhen-2 0.37
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Ataxia-telangiectasia-like disorder; Hereditary cancer-predispos)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-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)