R110Q (p.Arg110Gln) variant of ABCA1 (O95477)
R110Q (p.Arg110Gln) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
R110Q (p.Arg110Gln) variant details
- p.Arg110Gln
- ExAC rs748409694
- TOPMed rs748409694
- gnomAD rs748409694
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.12
- MetaLR 0.06
- MetaSVM -1.00
- CADD 5.46
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available