Q73H (p.Gln73His) variant of BAK1 (Q16611)
Q73H (p.Gln73His) in BAK1 (Q16611) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
Q73H (p.Gln73His) variant details
- p.Gln73His
- ExAC rs752817502
- gnomAD rs752817502
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.10
- CADD 24.20
- PolyPhen-2 0.62
- SIFT 0.01
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available