N107K (p.Asn107Lys) variant of BIN1 (O00499)
N107K (p.Asn107Lys) in BIN1 (O00499) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
N107K (p.Asn107Lys) variant details
- p.Asn107Lys
- 1000Genomes rs529323298
- ExAC rs529323298
- TOPMed rs529323298
- gnomAD rs529323298
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.095
- REVEL 0.09
- CADD 6.07
- PolyPhen-2 0.03
- SIFT 0.15
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available