M1I (p.Met1Ile) variant of RAD50 (DNA repair protein RAD50)
M1I (p.Met1Ile) in RAD50 (DNA repair protein RAD50) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; not provided; Nijmegen breakage syndrom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs377260382
- ClinGen CA331889
- ClinVar RCV000115961
- ClinVar RCV001781448
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Nijmegen breakage syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- MetaLR 0.21
- MetaSVM -0.70
- PolyPhen-2 1.00
- SIFT 0.25
- EVE 0.99
- MutPred 0.99
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided; Nijmegen)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)