I21T (p.Ile21Thr) variant of MRE11 (P49959)
I21T (p.Ile21Thr) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
I21T (p.Ile21Thr) variant details
- p.Ile21Thr
- rs1475558133
- ClinGen CA382380969
- ClinVar RCV000823893
- ClinVar RCV004639385
- Uncertain significance
- Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.44
- CADD 22.40
- PolyPhen-2 0.53
- SIFT 0.93
- 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 2.8e-06)
- 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)