Q133R (p.Gln133Arg) variant of ABCA1 (O95477)
Q133R (p.Gln133Arg) in ABCA1 (O95477) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
Q133R (p.Gln133Arg) variant details
- p.Gln133Arg
- ExAC rs771194181
- TOPMed rs771194181
- gnomAD rs771194181
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.23
- MetaLR 0.74
- MetaSVM -0.21
- CADD 1.69
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available