C3F (p.Cys3Phe) variant of ABCA1 (O95477)
C3F (p.Cys3Phe) 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 0.23 / 1. The record also includes population frequency data and structural context.
C3F (p.Cys3Phe) variant details
- p.Cys3Phe
- rs149491765
- ClinGen CA5169519
- ClinVar RCV004304559
- ESP rs149491765
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.23
- CADD 3.71
- PolyPhen-2 0.00
- SIFT 0.61
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available