A6P (p.Ala6Pro) variant of MRE11 (P49959)
A6P (p.Ala6Pro) 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; Ataxia-telangiectasia-like disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A6P (p.Ala6Pro) variant details
- p.Ala6Pro
- rs1060501784
- ClinGen CA382381558
- ClinVar RCV002233071
- ClinVar RCV002461946
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Ataxia-telangiectasia-like disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.15
- CADD 12.90
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Ataxia-telangiectasia-l)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-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)