M26L (p.Met26Leu) variant of MRE11 (P49959)
M26L (p.Met26Leu) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
M26L (p.Met26Leu) variant details
- p.Met26Leu
- rs765822583
- ClinGen CA6235465
- cosmic curated COSV10740
- ClinVar RCV004521555
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.30
- AlphaMissense 0.08
- MetaLR 0.22
- MetaSVM -0.78
- CADD 16.20
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)