P85S (p.Pro85Ser) variant of ABCA1 (O95477)
P85S (p.Pro85Ser) in ABCA1 (O95477) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes structural context.
P85S (p.Pro85Ser) variant details
- p.Pro85Ser
- rs2119176197
- ClinGen CA374316311
- ClinVar RCV002261874
- Ensembl rs2119176197
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- AlphaMissense 0.11
- MetaLR 0.99
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.33
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in FHA1)
- UniProt: Uncertain significance (in FHA1)
- Structural context available