N38K (p.Asn38Lys) variant of RAD50 (DNA repair protein RAD50)
N38K (p.Asn38Lys) 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 0.52 / 1. The record also includes published literature and structural context.
N38K (p.Asn38Lys) variant details
- p.Asn38Lys
- rs878854784
- ClinGen CA10582368
- ClinVar RCV000227199
- Ensembl rs878854784
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- AlphaMissense 1.00
- MetaLR 0.22
- 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)