I33S (p.Ile33Ser) variant of RAD50 (DNA repair protein RAD50)
I33S (p.Ile33Ser) 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 0.40 / 1. The record also includes published literature and structural context.
I33S (p.Ile33Ser) variant details
- p.Ile33Ser
- rs1060501950
- ClinGen CA16611703
- ClinVar RCV000470145
- Ensembl rs1060501950
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- AlphaMissense 0.96
- MetaLR 0.05
- MetaSVM -1.05
- PolyPhen-2 0.08
- SIFT 0.00
- EVE 0.88
- 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)