S100C (p.Ser100Cys) variant of ABCA1 (O95477)
S100C (p.Ser100Cys) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
S100C (p.Ser100Cys) variant details
- p.Ser100Cys
- TOPMed rs868563297
- gnomAD rs868563297
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.66
- MetaLR 0.42
- MetaSVM -0.12
- CADD 28.70
- PolyPhen-2 0.70
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available