K28T (p.Lys28Thr) variant of MRE11 (P49959)
K28T (p.Lys28Thr) in MRE11 (P49959) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
K28T (p.Lys28Thr) variant details
- p.Lys28Thr
- rs876658611
- ClinGen CA10579424
- ClinVar RCV000219989
- ClinVar RCV002472970
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.84
- CADD 26.60
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)