G58D (p.Gly58Asp) variant of BIN1 (O00499)
G58D (p.Gly58Asp) 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 0.59 / 1. The record also includes population frequency data and structural context.
G58D (p.Gly58Asp) variant details
- p.Gly58Asp
- TOPMed rs1282156307
- gnomAD rs1282156307
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.47
- CADD 25.50
- PolyPhen-2 0.57
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available