R24W (p.Arg24Trp) variant of APOA5 (Apolipoprotein A-V)
R24W (p.Arg24Trp) in APOA5 (Apolipoprotein A-V) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R24W (p.Arg24Trp) variant details
- p.Arg24Trp
- 1000Genomes rs144178633
- ESP rs144178633
- ExAC rs144178633
- TOPMed rs144178633
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.29
- CADD 16.00
- PolyPhen-2 0.35
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available