C75S (p.Cys75Ser) variant of ABCA1 (O95477)
C75S (p.Cys75Ser) in ABCA1 (O95477) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
C75S (p.Cys75Ser) variant details
- p.Cys75Ser
- TOPMed rs750478782
- gnomAD rs750478782
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.94
- MetaLR 0.99
- MetaSVM 0.94
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available