M1I (p.Met1Ile) variant of NBN (Nibrin)
M1I (p.Met1Ile) in NBN (Nibrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome; Aplastic anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1554569682
- ClinGen CA371664229
- ClinVar RCV000525671
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Aplastic anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- MetaLR 0.44
- MetaSVM -0.05
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.95
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Aplastic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Nijmegen Breakage Syndrome. (PMID 20301355)