P5H (p.Pro5His) variant of ABCA1 (O95477)
P5H (p.Pro5His) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
P5H (p.Pro5His) variant details
- p.Pro5His
- TOPMed rs1326879009
- gnomAD rs1326879009
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.32
- CADD 24.00
- PolyPhen-2 0.15
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available