K29R (p.Lys29Arg) variant of NBN (Nibrin)
K29R (p.Lys29Arg) 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; Microcephaly, normal intelligence and i. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
K29R (p.Lys29Arg) variant details
- p.Lys29Arg
- rs1554569112
- ClinGen CA371663405
- ClinVar RCV000556426
- ClinVar RCV001178803
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Microcephaly, normal intelligence and i
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- AlphaMissense 0.13
- MetaLR 0.67
- MetaSVM 0.37
- PolyPhen-2 1.00
- SIFT 0.05
- MutPred 0.72
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Microcephaly, normal in)
- 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)
- Cited in: Nijmegen Breakage Syndrome. (PMID 20301355)