K3T (p.Lys3Thr) variant of NBN (Nibrin)
K3T (p.Lys3Thr) in NBN (Nibrin) 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
K3T (p.Lys3Thr) variant details
- p.Lys3Thr
- rs771376603
- ClinGen CA371664207
- ClinVar RCV002376337
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.07
- CADD 19.20
- PolyPhen-2 0.01
- SIFT 0.16
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)