I35T (p.Ile35Thr) variant of NBN (Nibrin)
I35T (p.Ile35Thr) in NBN (Nibrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
I35T (p.Ile35Thr) variant details
- p.Ile35Thr
- rs1554569095
- ClinGen CA658683519
- ClinVar RCV000579707
- Ensembl rs1554569095
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.79
- CADD 26.20
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00019)
- 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)