S155C (p.Ser155Cys) variant of ABCA1 (O95477)
S155C (p.Ser155Cys) in ABCA1 (O95477) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes structural context.
S155C (p.Ser155Cys) variant details
- p.Ser155Cys
- rs1406953660
- ClinGen CA374313168
- ClinVar RCV004141247
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- AlphaMissense 0.62
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 0.74
- SIFT 0.05
- EVE 0.68
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available