N11K (p.Asn11Lys) variant of MRE11 (P49959)
N11K (p.Asn11Lys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
N11K (p.Asn11Lys) variant details
- p.Asn11Lys
- rs746088302
- ClinGen CA10579427
- ClinVar RCV000222620
- ClinVar RCV002229573
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.43
- CADD 23.20
- PolyPhen-2 0.73
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1e-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)