T3A (p.Thr3Ala) variant of MRE11 (P49959)
T3A (p.Thr3Ala) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
T3A (p.Thr3Ala) variant details
- p.Thr3Ala
- rs876658926
- ClinGen CA10579429
- ClinVar RCV000216593
- ClinVar RCV001299121
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Ataxia-telangiectasia-like disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.13
- CADD 10.70
- PolyPhen-2 0.00
- SIFT 0.58
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Ataxia-telangiectasia-l)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-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)