A11V (p.Ala11Val) variant of NBN (Nibrin)
A11V (p.Ala11Val) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A11V (p.Ala11Val) variant details
- p.Ala11Val
- rs1812242013
- ClinGen CA371664134
- ClinVar RCV002255964
- ClinVar RCV005419420
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.15
- CADD 24.20
- PolyPhen-2 0.70
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-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)