D83N (p.Asp83Asn) variant of BAK1 (Q16611)
D83N (p.Asp83Asn) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
D83N (p.Asp83Asn) variant details
- p.Asp83Asn
- ExAC rs769426436
- TOPMed rs769426436
- gnomAD rs769426436
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.30
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available