T43K (p.Thr43Lys) variant of RAD50 (DNA repair protein RAD50)
T43K (p.Thr43Lys) 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 0.55 / 1. The record also includes published literature and structural context.
T43K (p.Thr43Lys) variant details
- p.Thr43Lys
- rs369819304
- ClinGen CA360952021
- ClinVar RCV002383274
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- AlphaMissense 1.00
- MetaLR 0.29
- MetaSVM -0.28
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- 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)