C3Y (p.Cys3Tyr) variant of ABCA1 (O95477)
C3Y (p.Cys3Tyr) 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 0.21 / 1. The record also includes population frequency data and structural context.
C3Y (p.Cys3Tyr) variant details
- p.Cys3Tyr
- cosmic curated COSV10531
- ESP rs149491765
- ExAC rs149491765
- TOPMed rs149491765
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.18
- CADD 8.76
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available