V26I (p.Val26Ile) variant of NBN (Nibrin)
V26I (p.Val26Ile) in NBN (Nibrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Microcephaly, normal intelligence and immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
V26I (p.Val26Ile) variant details
- p.Val26Ile
- rs752964949
- ClinGen CA181281141
- ClinVar RCV001921957
- ExAC rs752964949
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.28
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Microcephaly, normal intelligence and immunodeficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Nijmegen Breakage Syndrome. (PMID 20301355)