D57N (p.Asp57Asn) variant of BAK1 (Q16611)
D57N (p.Asp57Asn) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
D57N (p.Asp57Asn) variant details
- p.Asp57Asn
- cosmic curated COSV10970
- ExAC rs778549210
- TOPMed rs778549210
- gnomAD rs778549210
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.09
- CADD 19.90
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available