M7I (p.Met7Ile) variant of RAD50 (DNA repair protein RAD50)
M7I (p.Met7Ile) in RAD50 (DNA repair protein RAD50) 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 published literature and structural context.
M7I (p.Met7Ile) variant details
- p.Met7Ile
- rs1280108868
- ClinGen CA360950807
- ClinVar RCV003584135
- Ensembl rs1280108868
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- AlphaMissense 0.79
- MetaLR 0.04
- MetaSVM -1.16
- PolyPhen-2 0.77
- SIFT 0.01
- EVE 0.44
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)