I46N (p.Ile46Asn) variant of RAD50 (DNA repair protein RAD50)
I46N (p.Ile46Asn) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
I46N (p.Ile46Asn) variant details
- p.Ile46Asn
- rs587780149
- ClinGen CA288193
- ClinVar RCV000115932
- ClinVar RCV001369003
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- AlphaMissense 0.99
- MetaLR 0.17
- MetaSVM -0.67
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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)