A6T (p.Ala6Thr) variant of MRE11 (P49959)
A6T (p.Ala6Thr) in MRE11 (P49959) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A6T (p.Ala6Thr) variant details
- p.Ala6Thr
- rs1060501784
- ClinGen CA16613710
- cosmic curated COSV10012
- ClinVar RCV000462838
- Conflicting interpretations
- Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.17
- CADD 7.64
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Ataxia-telangiectasia-like disorder; Hereditary cancer-predispos)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)