R104H (p.Arg104His) variant of ABCA1 (O95477)
R104H (p.Arg104His) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
R104H (p.Arg104His) variant details
- p.Arg104His
- ExAC rs772601794
- TOPMed rs772601794
- gnomAD rs772601794
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.92
- MetaLR 0.94
- MetaSVM 1.07
- CADD 27.30
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available