N50T (p.Asn50Thr) variant of MRE11 (P49959)
N50T (p.Asn50Thr) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
N50T (p.Asn50Thr) variant details
- p.Asn50Thr
- rs746023147
- ClinGen CA6235461
- ClinVar RCV002962814
- ClinVar RCV004068303
- Uncertain significance
- Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.43
- AlphaMissense 0.10
- MetaLR 0.41
- MetaSVM -0.46
- CADD 21.70
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (Ataxia-telangiectasia-like disorder; Hereditary cancer-predispos)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- 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)