I9L (p.Ile9Leu) variant of RAD50 (DNA repair protein RAD50)
I9L (p.Ile9Leu) 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 0.41 / 1. The record also includes published literature and structural context.
I9L (p.Ile9Leu) variant details
- p.Ile9Leu
- rs1750019317
- ClinGen CA360950836
- ClinVar RCV001872763
- TOPMed rs1750019317
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- AlphaMissense 0.43
- MetaLR 0.06
- MetaSVM -1.17
- PolyPhen-2 0.80
- SIFT 0.25
- EVE 0.73
- 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)