T36M (p.Thr36Met) variant of MRE11 (P49959)
T36M (p.Thr36Met) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
T36M (p.Thr36Met) variant details
- p.Thr36Met
- rs768676557
- ClinGen CA192154
- cosmic curated COSV60577
- ClinVar RCV000164951
- Uncertain significance
- Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.75
- CADD 26.10
- PolyPhen-2 0.98
- 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 African/African-American population (allele frequency 9.7e-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)