Q6H (p.Gln6His) variant of ABCA1 (O95477)
Q6H (p.Gln6His) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
Q6H (p.Gln6His) variant details
- p.Gln6His
- TOPMed rs1226778696
- gnomAD rs1226778696
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.75
- CADD 24.60
- PolyPhen-2 0.97
- SIFT 0.02
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available