N83I (p.Asn83Ile) variant of BIN1 (O00499)
N83I (p.Asn83Ile) in BIN1 (O00499) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
N83I (p.Asn83Ile) variant details
- p.Asn83Ile
- TOPMed rs1363900230
- gnomAD rs1363900230
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.03
- CADD 23.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available