R104P (p.Arg104Pro) variant of ABCA1 (O95477)
R104P (p.Arg104Pro) 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.
R104P (p.Arg104Pro) variant details
- p.Arg104Pro
- cosmic curated COSV10748
- ExAC rs772601794
- TOPMed rs772601794
- gnomAD rs772601794
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- REVEL 0.91
- MetaLR 0.92
- MetaSVM 1.03
- CADD 29.90
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0037)
- Structural context available