N38I (p.Asn38Ile) variant of RAD50 (DNA repair protein RAD50)
N38I (p.Asn38Ile) 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 0.48 / 1. The record also includes published literature and structural context.
N38I (p.Asn38Ile) variant details
- p.Asn38Ile
- rs750480943
- ClinGen CA360951821
- ClinVar RCV001970339
- ExAC rs750480943
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- AlphaMissense 0.89
- MetaLR 0.12
- MetaSVM -0.99
- 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)