V54I (p.Val54Ile) variant of NBN (Nibrin)
V54I (p.Val54Ile) in NBN (Nibrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary breast ovarian cancer syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
V54I (p.Val54Ile) variant details
- p.Val54Ile
- rs1211487080
- ClinGen CA371662916
- ClinVar RCV001030568
- TOPMed rs1211487080
- Uncertain significance
- Hereditary breast ovarian cancer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- AlphaMissense 0.08
- MetaLR 0.18
- MetaSVM -0.95
- PolyPhen-2 0.16
- SIFT 0.32
- MutPred 0.60
- ClinVar: Uncertain significance (Hereditary breast ovarian cancer syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. (PMID 12692171)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)