V26A (p.Val26Ala) variant of NBN (Nibrin)
V26A (p.Val26Ala) in NBN (Nibrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Aplastic anemia; Microcephaly, normal intelligence and immunodeficiency; Heredit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
V26A (p.Val26Ala) variant details
- p.Val26Ala
- rs781536675
- ClinGen CA4803059
- ClinVar RCV000820194
- ClinVar RCV002408973
- Uncertain significance
- Aplastic anemia; Microcephaly, normal intelligence and immunodeficiency; Heredit
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.57
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Aplastic anemia; Microcephaly, normal intelligence and immunodef)
- 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)
- Cited in: Nijmegen Breakage Syndrome. (PMID 20301355)