H99D (p.His99Asp) variant of BAK1 (Q16611)
H99D (p.His99Asp) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
H99D (p.His99Asp) variant details
- p.His99Asp
- ESP rs377341171
- ExAC rs377341171
- TOPMed rs377341171
- gnomAD rs377341171
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.03
- CADD 20.70
- PolyPhen-2 0.15
- SIFT 0.44
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available