C3S (p.Cys3Ser) variant of ABCA1 (O95477)
C3S (p.Cys3Ser) in ABCA1 (O95477) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
C3S (p.Cys3Ser) variant details
- p.Cys3Ser
- ESP rs149491765
- ExAC rs149491765
- TOPMed rs149491765
- gnomAD rs149491765
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.10
- CADD 8.67
- PolyPhen-2 0.01
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 7.4e-05)
- Structural context available