S2T (p.Ser2Thr) variant of MRE11 (P49959)
S2T (p.Ser2Thr) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S2T (p.Ser2Thr) variant details
- p.Ser2Thr
- rs1487843687
- ClinGen CA382381609
- ClinVar RCV000563074
- gnomAD rs1487843687
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.12
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-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)