A47S (p.Ala47Ser) variant of MRE11 (P49959)
A47S (p.Ala47Ser) 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 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
A47S (p.Ala47Ser) variant details
- p.Ala47Ser
- rs1428826563
- ClinGen CA382380613
- cosmic curated COSV60577
- ClinVar RCV000561468
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.86
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance (in ATLD1)
- UniProt: Uncertain significance (in ATLD1)
- Most common in the South Asian population (allele frequency 4.6e-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)