N83S (p.Asn83Ser) variant of BIN1 (O00499)
N83S (p.Asn83Ser) in BIN1 (O00499) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
N83S (p.Asn83Ser) variant details
- p.Asn83Ser
- TOPMed rs1363900230
- gnomAD rs1363900230
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.03
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.64
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available