I46T (p.Ile46Thr) variant of RAD50 (DNA repair protein RAD50)
I46T (p.Ile46Thr) 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 0.50 / 1. The record also includes published literature and structural context.
I46T (p.Ile46Thr) variant details
- p.Ile46Thr
- rs587780149
- ClinGen CA360953186
- ClinVar RCV000549208
- ExAC rs587780149
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- AlphaMissense 0.99
- MetaLR 0.17
- MetaSVM -0.67
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- 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)